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

Gene ID: 5333, updated on 8-Dec-2018

Summary

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
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]
Expression
Broad expression in testis (RPKM 17.3), esophagus (RPKM 7.7) and 24 other tissues See more
Orthologs

Genomic context

See PLCD1 in Genome Data Viewer
Location:
3p22.2
Exon count:
16
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 DLEC1 cilia and flagella associated protein Neighboring gene uncharacterized LOC105377033

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
 
phosphatidylinositol phospholipase C activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylinositol phospholipase C activity TAS
Traceable Author Statement
more info
 
phosphatidylinositol-4,5-bisphosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylinositol-4,5-bisphosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
angiogenesis IEA
Inferred from Electronic Annotation
more info
 
inositol phosphate metabolic process TAS
Traceable Author Statement
more info
 
inositol trisphosphate biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular exosome HDA PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1
Names
PLC-delta-1
Phospholipase C I 1
epididymis secretory sperm binding protein
phosphoinositide phospholipase C-delta-1
phospholipase C-III
NP_001124436.1
NP_006216.2
XP_016862111.1

NCBI Reference Sequences (RefSeq)

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, ENST00000463876.5
    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, ENST00000334661.4
    Conserved Domains (4) 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
    cd13363
    Location:22139
    PH_PLC_delta; Phospholipase C-delta (PLC-delta) pleckstrin homology (PH) domain
    cd16217
    Location:144283
    EFh_PI-PLCdelta1; EF-hand motif found in phosphoinositide phospholipase C delta 1 (PI-PLC-delta1)

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 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 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_001740173.2 RNA Sequence

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