PLCD1 phospholipase C, delta 1 [Homo sapiens] - Gene

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Summary

Official Symbol: PLCD1provided by HGNC
Official Full Name: phospholipase C, delta 1provided by HGNC
Primary source: 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]

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Genomic context

Location :: 3p22-p21.3

Sequence :: Chromosome: 3; NC_000003.11 (38048987..38071154, complement)

See PLCD1 in Epigenomics, MapViewer

Chromosome 3 - NC_000003.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Increased PLC-delta1 activity causes enhanced coronary vasomotility such as that seen in patients with coronary spastic angina.
Title: Coronary vasospasm induced in transgenic mouse with increased phospholipase C-δ1 activity.
Mutations in this gene cause hereditary porcelain nails. Review.
Title: [Of genes and nails].
Significantly deregulated pathways in colorectal cancer were identified and repression of PLCD1 and PLCE1 expression, was validated.
Title: Phospholipase C isozymes are deregulated in colorectal cancer--insights gained from gene set enrichment analysis of the transcriptome.
these data show that mutations in PLCD1 underlie hereditary leukonychia, revealing a gene involved in molecular control of nail growth.
Title: Hereditary leukonychia, or porcelain nails, resulting from mutations in PLCD1.
PLCD1 is silenced by promoter methylation in breast cancer. Silencing of PLCD1 is reversed by demethylation which leads to the disruption of cell cycle at G2/M phase in breast cancer, indicating that PLCD1 functions as a tumor suppressor in this tumor.
Title: PLCD1 is a functional tumor suppressor inducing G(2)/M arrest and frequently methylated in breast cancer.
Rac1 activates phospholipase Cdelta1 through phospholipase Cbeta2
Title: The small G protein Rac1 activates phospholipase Cdelta1 through phospholipase Cbeta2.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
After PLC-delta 1 treatment with small interfering RNA, angiotensin II type 1 receptor-stimulated inositol phosphate formation is attenuated.
Title: The small GTPase Ral couples the angiotensin II type 1 receptor to the activation of phospholipase C-delta 1.
Data are consistent with the idea that phospholipase C d1 and d3 isoforms support the growth and migration of normal and neoplastic mammary epithelial cells in vitro.
Title: Expression and function of phospholipase C in breast carcinoma.
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Association of genetic variants with chronic kidney disease in individuals with different lipid profiles.

Submit: New GeneRIF Correction See all (23)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Nail disorder, nonsyndromic congenital, 3, (leukonychia)

MIM: 151600

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HIV-1 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
Tat	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

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_006216.1			BIND	PubMed	PLCD1 (PLC-delta-1) interacts with PtdIns(4,5)P2 (PIP2).
P51178	Calmodulin 1	CALM1	HPRD	PubMed
P51178	P17677	GAP43	HPRD	PubMed
P51178	Q14974	KPNB1	HPRD	PubMed
P51178	P11233	RALA	HPRD	PubMed
P51178	P11234	RALB	HPRD	PubMed
P51178	P21980	TGM2	HPRD	PubMed
BioGRID:111349	BioGRID:108867	GAP43	BioGRID	PubMed	Affinity Capture-Western
BioGRID:111349	BioGRID:111834	RALA	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:111349	BioGRID:112910	TGM2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:111349	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

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
hydrolase activity	IEA Inferred from Electronic Annotation more info
phosphatidylinositol phospholipase C activity	IEA Inferred from Electronic Annotation more info
signal transducer activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
intracellular signal transduction	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

Component	Evidence Code	Pubs
cytoplasm	IDA Inferred from Direct Assay more info	PubMed

General protein information

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

EC 3.1.4.11

NP_006216.2

EC 3.1.4.11

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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

NG_031922.1 RefSeqGene

Range

5001..27168

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001130964.1 → NP_001124436.1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 isoform 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 (6) summary

cd00051
Location:165 – 230
Blast Score: 93

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 ...

pfam09279
Location:234 – 316
Blast Score: 245

efhand_like; Phosphoinositide-specific phospholipase C, efhand-like

cd00275
Location:650 – 776
Blast Score: 473

C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)

cd01248
Location:38 – 149
Blast Score: 287

PH_PLC; Phospholipase C (PLC) pleckstrin homology (PH) domain

cd08593
Location:316 – 617
Blast Score: 1246

PI-PLCc_delta; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-delta

PLN02228
Location:233 – 776
Blast Score: 638

PLN02228; Phosphoinositide phospholipase C
NM_006225.3 → NP_006216.2 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 isoform 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

cd00051
Location:144 – 209
Blast Score: 92

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 ...

pfam09279
Location:213 – 295
Blast Score: 245

efhand_like; Phosphoinositide-specific phospholipase C, efhand-like

cd00275
Location:629 – 755
Blast Score: 472

C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)

cd01248
Location:17 – 128
Blast Score: 288

PH_PLC; Phospholipase C (PLC) pleckstrin homology (PH) domain

cd08593
Location:295 – 596
Blast Score: 1246

PI-PLCc_delta; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-delta

PLN02228
Location:212 – 755
Blast Score: 637

PLN02228; Phosphoinositide phospholipase C

RNA

NR_024071.1 RNA Sequence

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: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000003.11 Reference GRCh37.p5 Primary Assembly

Range

38048987..38071154, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000135.1 Alternate HuRef

Range

37991684..38013851, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC144536.4 (33152..55267)	None
genomic	CH471055.1	EAW64507.1
mRNA	AB209862.1	BAD93099.1
mRNA	AK090774.1	BAG52226.1
mRNA	AK098690.1	None
mRNA	AK127813.1	BAG54577.1
mRNA	AK292324.1	BAF85013.1
mRNA	BC050382.1	AAH50382.2
mRNA	CX164303.1	None
mRNA	DA017409.1	None
mRNA	DA083758.1	None
mRNA	U09117.1	AAA73567.1
mRNA	BX647927.1	CAI46087.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
P51178.2	GenPept	UniProtKB/Swiss-Prot:P51178
Q59EE9	GenPept	UniProtKB/TrEMBL:Q59EE9
Q5HYD7	GenPept	UniProtKB/TrEMBL:Q5HYD7