PLD1 phospholipase D1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PLD1provided by HGNC
Official Full Name: phospholipase D1provided by HGNC
Primary source: HGNC:HGNC:9067
See related: Ensembl:ENSG00000075651 MIM:602382; AllianceGenome:HGNC:9067
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: CVDD; CVDP1
Summary: This gene encodes a phosphatidylcholine-specific phospholipase which catalyzes the hydrolysis of phosphatidylcholine in order to yield phosphatidic acid and choline. The enzyme may play a role in signal transduction and subcellular trafficking. Alternative splicing results in multiple transcript variants with both catalytic and regulatory properties. [provided by RefSeq, Sep 2011]
Expression: Ubiquitous expression in gall bladder (RPKM 28.0), duodenum (RPKM 12.6) and 24 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 3q26.31

Exon count:: 34

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (171600404..171810483, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (174384521..174594617, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (171318194..171528273, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Lipopolysaccharide Stimulates A549 Cell Migration through p-Tyr 42 RhoA and Phospholipase D1 Activity.
Title: Lipopolysaccharide Stimulates A549 Cell Migration through p-Tyr 42 RhoA and Phospholipase D1 Activity.
Nuclear PLD1 combined with NPM1 induces gemcitabine resistance through tumorigenic IL7R in pancreatic adenocarcinoma.
Title: Nuclear PLD1 combined with NPM1 induces gemcitabine resistance through tumorigenic IL7R in pancreatic adenocarcinoma.
Raf/MEK/ERK Signaling Pathway Is Involved in the Inhibition of Glioma Cell Proliferation and Invasion in the Ketogenic Microenvironment.
Title: Raf/MEK/ERK Signaling Pathway Is Involved in the Inhibition of Glioma Cell Proliferation and Invasion in the Ketogenic Microenvironment.
Phospholipase D and cancer metastasis: A focus on exosomes.
Title: Phospholipase D and cancer metastasis: A focus on exosomes.
Exosome Secretion and Epithelial-Mesenchymal Transition in Ovarian Cancer Are Regulated by Phospholipase D.
Title: Exosome Secretion and Epithelial-Mesenchymal Transition in Ovarian Cancer Are Regulated by Phospholipase D.
Phospholipase D1 promotes cervical cancer progression by activating the RAS pathway.
Title: Phospholipase D1 promotes cervical cancer progression by activating the RAS pathway.
Phospholipase D1-generated phosphatidic acid modulates secretory granule trafficking from biogenesis to compensatory endocytosis in neuroendocrine cells.
Title: Phospholipase D1-generated phosphatidic acid modulates secretory granule trafficking from biogenesis to compensatory endocytosis in neuroendocrine cells.
PLD1 knockdown reduces metastasis and inflammation of fibroblast-like synoviocytes in rheumatoid arthritis by modulating NF-kappaB and Wnt/beta-catenin pathways.
Title: PLD1 knockdown reduces metastasis and inflammation of fibroblast-like synoviocytes in rheumatoid arthritis by modulating NF-κB and Wnt/β-catenin pathways.
RalA and PLD1 promote lipid droplet growth in response to nutrient withdrawal.
Title: RalA and PLD1 promote lipid droplet growth in response to nutrient withdrawal.
Click chemistry-enabled CRISPR screening reveals GSK3 as a regulator of PLD signaling.
Title: Click chemistry-enabled CRISPR screening reveals GSK3 as a regulator of PLD signaling.

Submit: New GeneRIF Correction See all GeneRIFs (129)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Cardiac valvular defect, developmental MedGen: C5774175 OMIM: 212093 GeneReviews: Not available	Compare labs

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

Go to the top of the page Help

Replication interactions

Interaction	Pubs
HIV-1 replication requires PLD1 as shown through specific PLD1 inhibitors in activated CD4+ T cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120-induced phosphatidylcholine-specific phospholipase D (PLD) activity is dependent on the activation of ERK1/2	PubMed
Tat	tat	Microarray analysis indicates HIV-1 Tat-induced upregulation of phosphatidylcholine-specific phospholipase D1 (PLD1) in primary human brain microvascular endothelial cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

SHGC-84621 (e-PCR)
- UniSTS:102946

A004G48 (e-PCR)
- UniSTS:17975

SHGC-32810 (e-PCR)
- UniSTS:45624

HSCZTH032 (e-PCR)
- UniSTS:64058

RH48111 (e-PCR)
- UniSTS:22857

PLD1_2295 (e-PCR)
- UniSTS:280915

A009V13 (e-PCR)
- UniSTS:39266

SHGC-77547 (e-PCR)
- UniSTS:83338

RH45153 (e-PCR)
- UniSTS:63630

SHGC-154070 (e-PCR)
- UniSTS:183702

RH68800 (e-PCR)
- UniSTS:31148

SHGC-14202 (e-PCR)
- UniSTS:57007

G32874 (e-PCR)
- UniSTS:117453

SHGC-148349 (e-PCR)
- UniSTS:176341

RH77864 (e-PCR)
- UniSTS:52711

SHGC-77542 (e-PCR)
- UniSTS:74485

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables N-acylphosphatidylethanolamine-specific phospholipase D activity	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol binding	IEA Inferred from Electronic Annotation more info
enables phospholipase D activity	IBA Inferred from Biological aspect of Ancestor more info
enables phospholipase D activity	IDA Inferred from Direct Assay more info	PubMed
enables phospholipase D activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Ras protein signal transduction	TAS Traceable Author Statement more info
involved_in cellular response to nutrient	IDA Inferred from Direct Assay more info	PubMed
involved_in chemotaxis	TAS Traceable Author Statement more info
involved_in phosphatidic acid biosynthetic process	TAS Traceable Author Statement more info
involved_in phospholipid catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of translation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of microvillus assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of microvillus assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of synaptic vesicle cycle	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of synaptic vesicle cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of vesicle-mediated transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in small GTPase-mediated signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in cholinergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in cholinergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
located_in endocytic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in endosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in intracellular membrane-bounded organelle	IBA Inferred from Biological aspect of Ancestor more info
located_in late endosome membrane	IEA Inferred from Electronic Annotation more info
located_in lysosomal membrane	HDA more info	PubMed
located_in membrane	HDA more info	PubMed
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	TAS Traceable Author Statement more info
is_active_in plasma membrane region	IBA Inferred from Biological aspect of Ancestor more info
located_in specific granule membrane	TAS Traceable Author Statement more info
located_in tertiary granule membrane	TAS Traceable Author Statement more info

General protein information

Go to the top of the page Help

Preferred Names: phospholipase D1

Names: choline phosphatase 1; phosphatidylcholine-hydrolyzing phospholipase D1; phospholipase D1, phosphatidylcholine-specific

NP_001123553.1

EC 3.1.4.4

NP_002653.1

EC 3.1.4.4

XP_005247590.1

EC 3.1.4.4

XP_005247591.1

EC 3.1.4.4

XP_011511199.1

EC 3.1.4.4

XP_011511200.1

EC 3.1.4.4

XP_011511201.1

EC 3.1.4.4

XP_016862113.1

EC 3.1.4.4

XP_047304272.1

EC 3.1.4.4

XP_047304273.1

EC 3.1.4.4

XP_047304274.1

EC 3.1.4.4

XP_054202834.1

EC 3.1.4.4

XP_054202835.1

EC 3.1.4.4

XP_054202836.1

EC 3.1.4.4

XP_054202837.1

EC 3.1.4.4

XP_054202838.1

EC 3.1.4.4

XP_054202839.1

EC 3.1.4.4

XP_054202840.1

EC 3.1.4.4

XP_054202841.1

EC 3.1.4.4

XP_054202842.1

EC 3.1.4.4

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_029851.1 RefSeqGene

Range

5012..215091

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001130081.3 → NP_001123553.1 phospholipase D1 isoform b

See identical proteins and their annotated locations for NP_001123553.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the coding region, compared to variant 1. The resulting isoform (b) has the same N- and C-termini, but is shorter compared to isoform a.

Source sequence(s)

AB209907, AC008134, DA464847

Consensus CDS

CCDS46957.1

UniProtKB/TrEMBL

Q59EA4

Related

ENSP00000348681.5, ENST00000356327.9

Conserved Domains (5) summary

cd07296
Location:78 → 209

PX_PLD1; The phosphoinositide binding Phox Homology domain of Phospholipase D1

cd09842
Location:352 → 502

PLDc_vPLD1_1; Catalytic domain, repeat 1, of vertebrate phospholipase D1

cd09844
Location:716 → 897

PLDc_vPLD1_2; Catalytic domain, repeat 2, of vertebrate phospholipase D1

PLN02866
Location:82 → 1021

PLN02866; phospholipase D

cd01254
Location:197 → 326

PH_PLD; Phospholipase D pleckstrin homology (PH) domain
NM_002662.5 → NP_002653.1 phospholipase D1 isoform a

See identical proteins and their annotated locations for NP_002653.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).

Source sequence(s)

AB209907, AC008134, BC068976, DA464847

Consensus CDS

CCDS3216.1

UniProtKB/Swiss-Prot

Q13393

UniProtKB/TrEMBL

Q59EA4

Related

ENSP00000342793.4, ENST00000351298.9

Conserved Domains (1) summary

cl26365
Location:82 → 1059

PLN03008; Phospholipase D delta

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

171600404..171810483 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047448316.1 → XP_047304272.1 phospholipase D1 isoform X1

UniProtKB/Swiss-Prot

Q13393
XM_005247534.3 → XP_005247591.1 phospholipase D1 isoform X2

See identical proteins and their annotated locations for XP_005247591.1

UniProtKB/TrEMBL

Q59EA4

Conserved Domains (5) summary

cd07296
Location:78 → 209

PX_PLD1; The phosphoinositide binding Phox Homology domain of Phospholipase D1

cd09842
Location:352 → 502

PLDc_vPLD1_1; Catalytic domain, repeat 1, of vertebrate phospholipase D1

cd09844
Location:716 → 897

PLDc_vPLD1_2; Catalytic domain, repeat 2, of vertebrate phospholipase D1

PLN02866
Location:82 → 1021

PLN02866; phospholipase D

cd01254
Location:197 → 326

PH_PLD; Phospholipase D pleckstrin homology (PH) domain
XM_005247533.3 → XP_005247590.1 phospholipase D1 isoform X1

See identical proteins and their annotated locations for XP_005247590.1

UniProtKB/Swiss-Prot

Q13393

UniProtKB/TrEMBL

Q59EA4

Conserved Domains (1) summary

cl26365
Location:82 → 1059

PLN03008; Phospholipase D delta
XM_047448318.1 → XP_047304274.1 phospholipase D1 isoform X6
XM_011512899.3 → XP_011511201.1 phospholipase D1 isoform X7

Conserved Domains (3) summary

cd09844
Location:337 → 518

PLDc_vPLD1_2; Catalytic domain, repeat 2, of vertebrate phospholipase D1

pfam13091
Location:349 → 520

PLDc_2; PLD-like domain

cl15239
Location:1 → 85

PLDc_SF; Catalytic domain of phospholipase D superfamily proteins
XM_017006624.2 → XP_016862113.1 phospholipase D1 isoform X7

Conserved Domains (3) summary

cd09844
Location:337 → 518

PLDc_vPLD1_2; Catalytic domain, repeat 2, of vertebrate phospholipase D1

pfam13091
Location:349 → 520

PLDc_2; PLD-like domain

cl15239
Location:1 → 85

PLDc_SF; Catalytic domain of phospholipase D superfamily proteins
XM_011512898.2 → XP_011511200.1 phospholipase D1 isoform X4

UniProtKB/TrEMBL

Q59EA4

Conserved Domains (6) summary

cd07296
Location:78 → 209

PX_PLD1; The phosphoinositide binding Phox Homology domain of Phospholipase D1

cd09842
Location:352 → 502

PLDc_vPLD1_1; Catalytic domain, repeat 1, of vertebrate phospholipase D1

cd09844
Location:754 → 935

PLDc_vPLD1_2; Catalytic domain, repeat 2, of vertebrate phospholipase D1

cd01254
Location:197 → 326

PH_PLD; Phospholipase D pleckstrin homology (PH) domain

pfam00169
Location:222 → 327

PH; PH domain

pfam13091
Location:766 → 937

PLDc_2; PLD-like domain
XM_047448317.1 → XP_047304273.1 phospholipase D1 isoform X5
XM_011512897.2 → XP_011511199.1 phospholipase D1 isoform X3

See identical proteins and their annotated locations for XP_011511199.1

UniProtKB/TrEMBL

Q59EA4

Conserved Domains (6) summary

cd07296
Location:78 → 209

PX_PLD1; The phosphoinositide binding Phox Homology domain of Phospholipase D1

cd09842
Location:352 → 502

PLDc_vPLD1_1; Catalytic domain, repeat 1, of vertebrate phospholipase D1

cd09844
Location:754 → 935

PLDc_vPLD1_2; Catalytic domain, repeat 2, of vertebrate phospholipase D1

cd01254
Location:197 → 326

PH_PLD; Phospholipase D pleckstrin homology (PH) domain

pfam00169
Location:222 → 327

PH; PH domain

pfam13091
Location:766 → 937

PLDc_2; PLD-like domain