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    PLCD1 phospholipase C delta 1 [ Homo sapiens (human) ]

    Gene ID: 5333, updated on 7-May-2017
    Official Symbol
    PLCD1provided by HGNC
    Official Full Name
    phospholipase C delta 1provided by HGNC
    Primary source
    HGNC:HGNC:9060
    See related
    Ensembl:ENSG00000187091 MIM:602142; Vega:OTTHUMG00000130813
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NDNC3; PLC-III
    Summary
    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]
    Orthologs
    Location:
    3p22.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 3 NC_000003.12 (38007496..38029663, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (38048987..38071154, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene CTD small phosphatase like Neighboring gene microRNA 26a-1 Neighboring gene villin like Neighboring gene protein phosphatase 2 regulatory subunit Bdelta pseudogene 1 Neighboring gene deleted in lung and esophageal cancer 1 Neighboring gene uncharacterized LOC105377033

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 envelope glycoproteins gp120 and gp160 directly and specifically impair the CD3/TcR-mediated activation of phospholipase C (PLC) via the CD4 molecule in uninfected T cells PubMed
    Pr55(Gag) gag HIV-1 Gag co-localizes with the PH domain of PLC-delta at the long and thin connections termed tunnelling nanotube tips PubMed
    gag Replacement of the myristoylation signal of MA in HIV-1 with a plasma membrane targeting motif (N-terminal 120 amino acids) of the phospholipase C-delta1 pleckstrin homology (PH) domain results in infectious virus particle production PubMed
    Tat tat Phospholipase C/protein kinase C pathway-dependent phosphorylation of p44/42 and JNK MAP kinases is partially involved in IL-1beta induction by HIV-1 Tat PubMed
    tat HIV-1 Tat induces release of calcium and TNF-alpha production, an effect mediated at least in part by activation of phospholipase C PubMed

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GTPase activating protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    phosphatidic acid binding IEA
    Inferred from Electronic Annotation
    more info
     
    phosphatidylinositol phosphate binding IEA
    Inferred from Electronic Annotation
    more info
     
    phosphatidylinositol phospholipase C activity TAS
    Traceable Author Statement
    more info
     
    phosphatidylserine binding IEA
    Inferred from Electronic Annotation
    more info
     
    signal transducer activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    inositol phosphate metabolic process TAS
    Traceable Author Statement
    more info
     
    intracellular signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    labyrinthine layer blood vessel development IEA
    Inferred from Electronic Annotation
    more info
     
    lipid catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    phospholipid metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1
    Names
    PLC-delta-1
    phosphoinositide phospholipase C-delta-1
    phospholipase C-III
    NP_001124436.1
    NP_006216.2
    XP_016862111.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_031922.1 RefSeqGene

      Range
      5001..27168
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001130964.1NP_001124436.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 isoform 1

      See identical proteins and their annotated locations for NP_001124436.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AK090774, BC050382, DA083758
      Consensus CDS
      CCDS46793.1
      UniProtKB/Swiss-Prot
      P51178
      Related
      ENSP00000430344.1, OTTHUMP00000226936, ENST00000463876.5, OTTHUMT00000342510
      Conserved Domains (7) summary
      cd00275
      Location:650776
      C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
      cd08593
      Location:316617
      PI-PLCc_delta; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-delta
      PLN02228
      Location:233776
      PLN02228; Phosphoinositide phospholipase C
      cd13363
      Location:43160
      PH_PLC_delta; Phospholipase C-delta (PLC-delta) pleckstrin homology (PH) domain
      pfam00169
      Location:51151
      PH; PH domain
      pfam09279
      Location:234316
      EF-hand_like; Phosphoinositide-specific phospholipase C, efhand-like
      pfam14788
      Location:180229
      EF-hand_10; EF hand
    2. NM_006225.3NP_006216.2  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 isoform 2

      See identical proteins and their annotated locations for NP_006216.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' terminal exon compared to transcript variant 1, and initiates translation from an in-frame upstream AUG, resulting in a shorter isoform (2) with a different N-terminus compared to isoform 1.
      Source sequence(s)
      AK292324, BC050382
      Consensus CDS
      CCDS2671.1
      UniProtKB/Swiss-Prot
      P51178
      UniProtKB/TrEMBL
      A8K8F9
      Related
      ENSP00000335600.4, OTTHUMP00000161383, ENST00000334661.4, OTTHUMT00000253359
      Conserved Domains (7) summary
      cd00275
      Location:629755
      C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
      cd08593
      Location:295596
      PI-PLCc_delta; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-delta
      PLN02228
      Location:212755
      PLN02228; Phosphoinositide phospholipase C
      cd13363
      Location:22139
      PH_PLC_delta; Phospholipase C-delta (PLC-delta) pleckstrin homology (PH) domain
      pfam00169
      Location:30130
      PH; PH domain
      pfam09279
      Location:213295
      EF-hand_like; Phosphoinositide-specific phospholipase C, efhand-like
      pfam14788
      Location:159208
      EF-hand_10; EF hand

    RNA

    1. NR_024071.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) skips splicing at 2 adjacent internal coding exons, thus retaining the intervening sequence, compared to transcript variant 1. This results in a frame-shift and premature translation termination, rendering this transcript susceptible to NMD. This variant has transcript support, but is not expected to encode a viable protein product.
      Source sequence(s)
      AK090774, BC050382, CX164303, DA083758

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p7 Primary Assembly

      Range
      38007496..38029663 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017006622.1XP_016862111.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 isoform X1

    RNA

    1. XR_001740173.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018914.2 Alternate CHM1_1.1

      Range
      38000639..38022806 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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