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

PLCD1 Gene

protein-coding   GIFtS: 67
GCID: GC03M038023

phospholipase C, delta 1

 Explore 17 diseases affiliated with
PLCD1 via our new
 Human Malady Compendium 
Biological research products
for PLCD1
    

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

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

Quality score for the ORGUL clustered with this gene is 3

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

External Ids:    HGNC: 90601   Entrez Gene: 53332   Ensembl: ENSG000001870917   OMIM: 6021425   UniProtKB: P511783   
ORGUL members:         
NONCODE:n406564    

Export aliases for PLCD1 gene to outside databases

Previous GC identifers: GC03M037350 GC03U900338 GC03M038009


(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 PLCD1:
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)

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:
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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.1  NT_022517.18  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for PLCD1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P51178

  • 4/9 DME Specific Peptides for PLCD1 (P51178) (see all 9)
     VALNFQT  KGCRCLE  CGYVLKP  SSHNTYL 

    PLCD1 Protein expression data from MOPED and PaxDb:    About this image 
    PLCD1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001124436.1  NP_006216.2  

    ENSEMBL proteins: 
     ENSP00000430344   ENSP00000335600  
    Reactome Protein details: P51178
    Human Recombinant Protein Products for PLCD1: 
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    Novus Biologicals PLCD1 Protein
    Novus Biologicals PLCD1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA15702972
    GO:0005829cytosol IEA--

    PLCD1 for ontologies           About GeneDecksing



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    Browse ELISAs and CLIAs at Uscn


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    PLCD1 for domains           About GeneDecksing

    5/13 InterPro domains/families (see all 13):
     IPR015359 PLipase_C_EF-hand-like
     IPR011992 EF-hand-like_dom
     IPR002048 EF_hand_Ca-bd
     IPR001192 Pinositol_PLipase_C
     IPR001849 Pleckstrin_homology

    Graphical View of Domain Structure for InterPro Entry P51178

    ProtoNet protein and cluster: P51178

    3 Blocks protein families:
    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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    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): 5 molecular function terms (GO ID links to tree view):    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:0005543phospholipid binding IEA--
    GO:0032794GTPase activating protein binding IPI18434237
         
    PLCD1 for ontologies           About GeneDecksing


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

         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Plcd1):
     cellular  endocrine/exocrine gland  growth/size  integument  reproductive system 
     tumorigenesis 

    PLCD1 for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-out Plcd1tm1Tta for PLCD1
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for PLCD1 

    miRNA
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    8 QIAGEN miScript miRNA 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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    Gene Editing
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    Clone
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PLCD1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/34 super-pathways (see all 34About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Sweet Taste Signaling
    Sweet Taste Signaling1.00
    Cellular Effects of Sildenafil0.46
    Melatonin Signaling0.72
    Sperm Motility0.36
    2Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA1.00
    Activation of PKA through GPCR0.71
    cAMP Pathway0.77
    PKA Signaling0.56
    3CREB Pathway
    CREB Pathway1.00
    Activation of PKC through GPCR0.63
    IP3 Pathway0.68
    Intracellular Calcium Signaling0.50
    4NFAT and Cardiac Hypertrophy
    NFAT and Cardiac Hypertrophy1.00
    IGF1R Signaling0.37
    Signaling Involved in Cardiac Hypertrophy0.42
    5Inositol phosphate metabolism
    Inositol phosphate metabolism1.00
    Phosphatidylinositol signaling system0.59
    superpathway of inositol phosphate compounds0.59

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    4 EMD Millipore Pathways for PLCD1
        Development Activation of ERK by Alpha-1 adrenergic receptors
    Cytoskeleton remodeling RalB regulation pathway
    Anandamide biosynthesis and metabolism
    G-protein signaling Rap1A regulation pathway

    5/38 Downloadable PowerPoint Slides of QIAGEN 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

    3        Reactome Pathways for PLCD1
        Metabolism
    Inositol phosphate metabolism
    Synthesis of IP3 and IP4 in the cytosol

    1 PharmGKB Pathway for PLCD1
        Proton Pump Inhibitor Pathway, Pharmacodynamics

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


    PLCD1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PLCD1

    5/9 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): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001525angiogenesis IEA--
    GO:0006644phospholipid metabolic process TAS9588182
    GO:0016042lipid catabolic process IEA--
    GO:0035556intracellular signal transduction IEA--
    GO:0042127regulation of cell proliferation IEA--

    PLCD1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PLCD1 for compounds           About GeneDecksing

    EMD Millipore small molecules for PLCD1:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for PLCD1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    m-3M3FBSPhospholipase C activator[200933-14-8]
    AACOCF3Phospholipase A2 inhibitor[149301-79-1]
    U 73122Phospholipase C inhibitor[112648-68-7]
    D609Selective PC-PLC inhibitor[83373-60-8]

    10/1223 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

    10/16 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about PLCD1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    hsa-miR-191 hsa-miR-15a hsa-miR-497 hsa-miR-424 hsa-miR-195 hsa-miR-16 hsa-miR-1827 hsa-miR-15b
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    Inhib. RNA
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    Browse for Gene Knock-down Tools from EMD Millipore
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    OriGene siRNA: PLCD1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PLCD1
    Sirion Biotech Custom design and validation of potent shRNA sequences against PLCD1 
    Clone
    Products:
         
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PLCD1 (see all 5)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PLCD1 (see all 2)
    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)
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PLCD1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PLCD1

    Additional cDNA 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 

    24/131 AceView cDNA sequences (see all 131):

    BI753236 BX647927 BQ001499 CD368470 CR613815 BM720447 BU625195 AL705006 
    BQ647520 BC050382 BE884735 AI473335 BI769983 AK090774 AX746610 BU740372 
    BQ277711 BI489731 AI082772 BQ890375 BU859101 BI828021 BX103148 BP364646 

    GeneLoc Exon Structure

    5/10 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™, 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

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

    PLCD1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BoneThoracic RibBone
    KidneyRenal Collecting Duct SystemKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Definitive endoderm-like cells (A scalable, suspensi...)

    See PLCD1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PLCD1

    SOURCE GeneReport for Unigene cluster: Hs.80776
        SABiosciences 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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PLCD1 gene from 6/20 species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves PLCD11 phospholipase C, delta 1 68.65(n)
    68.65(a)
      420416  XM_418522.3  XP_418522.2 
    lizard
    (Anolis carolinensis)
    Reptilia PLCD16
    --
    68(a)
    1 ↔ 1
    6(1089644-1127886)
    zebrafish
    (Danio rerio)
    Actinopterygii wufj78d102 wufj78d10 76.27(n)   337489  BC051157.1 
    worm
    (Caenorhabditis elegans)
    Secernentea plc-46
    PhosphoLipase C family member (plc-4)
    32(a)
    possible ortholog
    IV(7509454-7512662)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons PLC51 phosphoinositide phospholipase C 5 42.82(n)
    32.83(a)
      835983  NM_125256.2  NP_200677.2 
    rice
    (Oryza sativa)
    Liliopsida --
    --
    (see all 4)
    phospholipase C, putative, expressed
    (see all 4)
    26(a)
    25(a)
    (see all 4)
    many ↔ many
    many ↔ many
    (see all 4)
    3(10024184-10026867)
    12(23015165-23019784)


    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
    Paralogs for PLCD1 gene
    PLCG22  PLCD42  PLCG12  PLCB22  PLCZ12  PLCB32  PLCH12  PLCD32  
    PLCB12  PLCB42  PLCH22  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, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/558 NCBI SNPs in PLCD1 are shown (see all 558    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs738254591,2
    C,F--37991363(+) CCATAC/GGAGCT 3 -- ds50013Minor allele frequency- G:0.06WA CSA 122
    rs23647851,2
    A--37992874(+) GGCCTA/TAGAGC 3 -- int10--------
    rs730608331,2
    C,F--37993010(+) TCCTGG/CTGTGA 3 -- int14Minor allele frequency- C:0.08NA CSA WA 242
    rs46790141,2
    C,H--37993229(+) CCATAC/ACGATC 3 -- spd1 spl34Minor allele frequency- A:0.00NS EA 418
    rs1138967261,2
    C,F--37993309(+) ATTCTG/ACTCAG 5 /S syn12Minor allele frequency- A:0.00NA 4510
    rs1117627931,2
    F--37993415(+) CCAATG/TCTCTC 3 -- int12Minor allele frequency- T:0.50CSA 4
    rs98428801,2
    C,F--37995310(+) CTCCGG/CTTCCC 3 -- int18Minor allele frequency- C:0.26WA NA CSA EA 369
    rs124912201,2
    H--37995902(+) GGAACC/TTACCA 3 -- int10--------
    rs765207651,2
    --37995978(+) CTGACT/CTACTA 3 -- int11Minor allele frequency- C:0.01EA 120
    rs763292661,2
    C--37996250(+) TCACTC/TTGTCG 3 -- int10--------

    HapMap Linkage Disequilibrium report for PLCD1 (38048987 - 38071253 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for PLCD1
         1 CNV: 3425
    Human Gene Mutation Database (HGMD): PLCD1

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    (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

    PLCD1 for disorders           About GeneDecksing

    OMIM gene information: 602142    OMIM disorders: --

    UniProtKB/Swiss-Prot: PLCD1_HUMAN, P51178
  • Defects in PLCD1 are the cause of nail disorder non-syndromic congenital type 3 (NDNC3) [MIM:151600]. NDNC3 is
  • 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)

    17 diseases for PLCD1:    About MalaCards
    leukonychia totalis    esophageal squamous cell carcinoma    squamous cell carcinoma    neurologic diseases
    insulinoma    colon carcinoma    alzheimer's disease    esophagitis
    gastric cancer    carcinoma    breast carcinoma    breast cancer
    hypertension    immunodeficiency    neuronitis    huntington's disease
    glioblastoma

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

    1 Novoseek 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)

    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)
    About This Section

    PubMed articles for PLCD1 gene, integrated from 9 sources (see all 130):
    (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. (1995)
    2. Genomic structure of the human PLCD1 (phospholipase C delta 1) locus on 3p22-->p21.3. (PubMed id 9345909)1, 3, 9 Ishikawa S....Nakamura Y. (1997)
    3. Hereditary leukonychia, or porcelain nails, resulting from mutations in PLCD1. (PubMed id 21665001)1, 2 Kiuru M....Christiano A.M. (2011)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. 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. (2003)
    6. Amyloid beta peptide (Abeta42) activates PLC-delta1 promoter through the NF-kappaB binding site. (PubMed id 14550290)1, 9 Kim J.Y....Rha H.K. (2003)
    7. Interactions of G(h)/transglutaminase with phospholipase Cdelta1 and with GTP. (PubMed id 10518533)1, 9 Murthy S.N....Lorand L. (1999)
    8. Regulation of phospholipase C-delta1 through direct interactions with the small GTPase Ral and calmodulin. (PubMed id 15817490)1, 9 Sidhu R.S....Bhullar R.P. (2005)
    9. Phospholipase Cdelta1 associates with importin beta1 and translocates into the nucleus in a Ca2+-dependent manner. (PubMed id 16115628)1, 9 Okada M....Yagisawa H. (2005)
    10. Regulation of phospholipase C-delta1 by ARGHAP6, a GTPase-activating protein for RhoA: possible role for enhanced activity of phospholipase C in hypertension. (PubMed id 18434237)1, 9 Ochocka A.M....Pawelczyk T. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 5333 HGNC: 9060 AceView: PLCD1 Ensembl:ENSG00000187091 euGenes: HUgn5333
    ECgene: PLCD1 Kegg: 5333 H-InvDB: PLCD1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PLCD1 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 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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    About This Section

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