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

Gene ID: 5333, updated on 11-Sep-2014
Official Symbol
PLCD1provided by HGNC
Official Full Name
phospholipase C, delta 1provided by HGNC
Primary source
HGNC:HGNC:9060
See related
Ensembl:ENSG00000187091; HPRD:09073; 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]
See PLCD1 in Epigenomics, MapViewer
Location:
3p22-p21.3
Exon count:
16
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like Neighboring gene microRNA 26a-1 Neighboring gene villin-like Neighboring gene protein phosphatase 2, regulatory subunit B, delta pseudogene 1 Neighboring gene deleted in lung and esophageal cancer 1 Neighboring gene acetyl-CoA acyltransferase 1

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 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 Protein 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 IEA
Inferred from Electronic Annotation
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
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IEA
Inferred from Electronic Annotation
more info
 
extracellular vesicular 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
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1
PLC-delta-1
phospholipase C-III
phosphoinositide phospholipase C-delta-1
1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase delta-1
NP_001124436.1
NP_006216.2

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 

    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 proteins identical to 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, OTTHUMP00000226936, ENST00000463876, OTTHUMT00000342510
    Conserved Domains (7) summary
    pfam09279
    Location:234316
    Blast Score: 250
    EF-hand_like; Phosphoinositide-specific phospholipase C, efhand-like
    cd00275
    Location:650776
    Blast Score: 479
    C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
    cd08593
    Location:316617
    Blast Score: 1274
    PI-PLCc_delta; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-delta
    PLN02228
    Location:233776
    Blast Score: 689
    PLN02228; Phosphoinositide phospholipase C
    cd00051
    Location:170210
    Blast Score: 101
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    cd13363
    Location:43160
    Blast Score: 535
    PH_PLC_delta; Phospholipase C-delta (PLC-delta) pleckstrin homology (PH) domain
    pfam13499
    Location:171226
    Blast Score: 81
    EF-hand_7; EF-hand domain pair
  2. NM_006225.3NP_006216.2  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 isoform 2

    See proteins identical to 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/TrEMBL
    A8K8F9
    UniProtKB/Swiss-Prot
    P51178
    Related
    ENSP00000335600, OTTHUMP00000161383, ENST00000334661, OTTHUMT00000253359
    Conserved Domains (6) summary
    pfam09279
    Location:213295
    Blast Score: 250
    EF-hand_like; Phosphoinositide-specific phospholipase C, efhand-like
    cd00275
    Location:629755
    Blast Score: 478
    C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
    cd08593
    Location:295596
    Blast Score: 1273
    PI-PLCc_delta; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-delta
    PLN02228
    Location:212755
    Blast Score: 689
    PLN02228; Phosphoinositide phospholipase C
    cd13363
    Location:22139
    Blast Score: 539
    PH_PLC_delta; Phospholipase C-delta (PLC-delta) pleckstrin homology (PH) domain
    pfam14788
    Location:159209
    Blast Score: 249
    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 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000003.12 

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

Alternate HuRef

Genomic

  1. AC_000135.1 

    Range
    37991684..38013851
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018914.2 

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