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 20... See more...

Aliases for PLD1 Gene

Aliases for PLD1 Gene

  • Phospholipase D1 2 3 4 5
  • Choline Phosphatase 1 2 3 4
  • Phosphatidylcholine-Hydrolyzing Phospholipase D1 3 4
  • Phospholipase D1, Phosphatidylcholine-Specific 2 3
  • EC 4 51
  • PLD 1 4
  • HPLD1 4
  • CVDD 3
  • PLD1 5

External Ids for PLD1 Gene

Previous GeneCards Identifiers for PLD1 Gene

  • GC03M168371
  • GC03M172277
  • GC03M172722
  • GC03M172641
  • GC03M172636
  • GC03M172801
  • GC03M171318
  • GC03M168688

Summaries for PLD1 Gene

Entrez Gene Summary for PLD1 Gene

  • 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]

GeneCards Summary for PLD1 Gene

PLD1 (Phospholipase D1) is a Protein Coding gene. Diseases associated with PLD1 include Cardiac Valvular Defect, Developmental and Coffin-Lowry Syndrome. Among its related pathways are Translation Translation regulation by Alpha-1 adrenergic receptors and Sweet Taste Signaling. Gene Ontology (GO) annotations related to this gene include phosphatidylinositol binding and N-acylphosphatidylethanolamine-specific phospholipase D activity. An important paralog of this gene is PLD2.

UniProtKB/Swiss-Prot Summary for PLD1 Gene

  • Implicated as a critical step in numerous cellular pathways, including signal transduction, membrane trafficking, and the regulation of mitosis. May be involved in the regulation of perinuclear intravesicular membrane traffic (By similarity).

Tocris Summary for PLD1 Gene

  • Phospholipases are a group of enzymes that hydrolyze phospholipids into fatty acids and other lipophilic molecules. There are four major classes; phospholipase A, phospholipase B, phosphoinositide-specific phospholipase C and phospholipase D.

Gene Wiki entry for PLD1 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PLD1 Gene

Genomics for PLD1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PLD1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J171804 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 619 +2.3 2263 9.3 CEBPG HNRNPL CREB1 GATAD2A TEAD4 PRDM10 ZNF629 TFE3 ZNF512 RFX1 PLD1 RPL22L1 FNDC3B TMEM212 ECT2 TNIK lnc-PLD1-1 RF00017-4168
GH03J171787 Enhancer 1.3 Ensembl ENCODE dbSUPER 28.5 +20.1 20112 6.7 GATAD2A PRDM10 ZNF629 SOX13 ZNF692 RCOR2 ZNF7 FOXA1 POLR2A PATZ1 PLD1 TMEM212 FNDC3B ECT2 RF00017-4168 lnc-PLD1-1 TNIK
GH03J171781 Enhancer 0.9 Ensembl ENCODE dbSUPER 26.6 +27.6 27635 4.2 IKZF1 ZNF7 PRDM1 SCRT2 MNT FOS BHLHE40 FOXA1 HIC1 ZNF366 PLD1 TMEM212 ECT2 RF00017-4168 lnc-PLD1-1 TNIK
GH03J171800 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 16.4 +9.0 8988 3 ZNF629 LARP7 STAT3 RELA TCF12 IKZF2 TRIM22 PKNOX1 SCRT2 ZBTB44 PLD1 TMEM212 FNDC3B lnc-PLD1-1 RF00017-4168 TNIK
GH03J171675 Enhancer 1.2 Ensembl ENCODE dbSUPER 14.6 +130.1 130103 10.4 GATAD2A REST ZNF512 SOX13 RCOR2 ZIC2 RXRB SP1 PBX2 CEBPA PLD1 TMEM212 TNIK SNODB1687 lnc-TNIK-5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PLD1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PLD1

Top Transcription factor binding sites by QIAGEN in the PLD1 gene promoter:
  • AP-1
  • c-Fos
  • c-Jun
  • C/EBPbeta
  • Chx10
  • FosB
  • Fra-1
  • JunB
  • JunD
  • Pbx1a

Genomic Locations for PLD1 Gene

Genomic Locations for PLD1 Gene
210,547 bases
Minus strand
210,546 bases
Minus strand

Genomic View for PLD1 Gene

Genes around PLD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLD1 Gene

Proteins for PLD1 Gene

  • Protein details for PLD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Phospholipase D1
    Protein Accession:

    Protein attributes for PLD1 Gene

    1074 amino acids
    Molecular mass:
    124184 Da
    Quaternary structure:
    • Interacts with PIP5K1B.

    Three dimensional structures from OCA and Proteopedia for PLD1 Gene

    Alternative splice isoforms for PLD1 Gene


neXtProt entry for PLD1 Gene

Selected DME Specific Peptides for PLD1 Gene


Post-translational modifications for PLD1 Gene

  • Ubiquitination at Lys189
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains & Families for PLD1 Gene

Gene Families for PLD1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for PLD1 Gene

  • Pleckstrin-like
  • Phox-like
  • Phospholipase D/Transphosphatidylase

Suggested Antigen Peptide Sequences for PLD1 Gene

GenScript: Design optimal peptide antigens:
  • Phosphatidylcholine-hydrolyzing phospholipase D1 (PLD1_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the phospholipase D family.
  • Belongs to the phospholipase D family.
genes like me logo Genes that share domains with PLD1: view

Function for PLD1 Gene

Molecular function for PLD1 Gene

UniProtKB/Swiss-Prot Function:
Implicated as a critical step in numerous cellular pathways, including signal transduction, membrane trafficking, and the regulation of mitosis. May be involved in the regulation of perinuclear intravesicular membrane traffic (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacyl-sn-glycero-3-phosphocholine + H2O = a 1,2-diacyl-sn-glycero-3-phosphate + choline + H(+); Xref=Rhea:RHEA:14445, ChEBI:CHEBI:15354, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:57643, ChEBI:CHEBI:58608; EC=;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Stimulated by phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate, activated by the phosphokinase C-alpha, by the ADP-ribosylation factor-1 (ARF-1), and to a lesser extent by GTP-binding proteins: RHO A, RAC-1 and CDC42. Inhibited by oleate.
GENATLAS Biochemistry:
phospholipase D1,phosphatidylcholine specific,membrane associated,activated by ADP-ribosylation factor 1 by protein kinase C alpha,and Rho A,involved in inflammation,metabolic regulation,oncogenesis,neural and cardiac stimulation

Enzyme Numbers (IUBMB) for PLD1 Gene

Phenotypes From GWAS Catalog for PLD1 Gene

Gene Ontology (GO) - Molecular Function for PLD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004630 phospholipase D activity TAS --
GO:0005515 protein binding IPI 17853892
GO:0016787 hydrolase activity IEA --
GO:0035091 phosphatidylinositol binding IEA --
genes like me logo Genes that share ontologies with PLD1: view
genes like me logo Genes that share phenotypes with PLD1: view

Human Phenotype Ontology for PLD1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PLD1 Gene

MGI Knock Outs for PLD1:
  • Pld1 Pld1<tm3Mafr>
  • Pld1 Pld1<tm1.1Mafr>
  • Pld1 Pld1<tm1.1Gdp>
  • Pld1 Pld1<tm1b(KOMP)Wtsi>

Animal Model Products

CRISPR Products

miRNA for PLD1 Gene

miRTarBase miRNAs that target PLD1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLD1

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for PLD1 Gene

Localization for PLD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLD1 Gene

Cytoplasm, perinuclear region. Endoplasmic reticulum membrane. Lipid-anchor. Cytoplasmic side. Golgi apparatus membrane. Lipid-anchor. Cytoplasmic side. Late endosome membrane. Lipid-anchor. Cytoplasmic side.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PLD1 gene
Compartment Confidence
plasma membrane 5
endosome 5
golgi apparatus 5
nucleus 4
endoplasmic reticulum 4
cytosol 4
lysosome 4
extracellular 2
cytoskeleton 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for PLD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005737 cytoplasm IEA --
GO:0005765 lysosomal membrane HDA 17897319
GO:0005768 endosome IDA 14718562
GO:0005783 endoplasmic reticulum IEA --
genes like me logo Genes that share ontologies with PLD1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PLD1 Gene

Pathways & Interactions for PLD1 Gene

genes like me logo Genes that share pathways with PLD1: view

Pathways by source for PLD1 Gene

10 GeneGo (Thomson Reuters) pathways for PLD1 Gene
  • Cytoskeleton remodeling_RalA regulation pathway
  • G-protein signaling RAC1 in cellular process
  • G-protein signaling_Cross-talk between Ras-family GTPases
  • G-protein signaling_RhoA regulation pathway
  • Immune response CD16 signaling in NK cells
12 Qiagen pathways for PLD1 Gene
  • Antioxidant Action of Vitamin-C
  • Endothelin-1 Signaling Pathway
  • FGF Pathway
  • G-AlphaQ Signaling
  • mTOR Pathway
1 Cell Signaling Technology pathway for PLD1 Gene

SIGNOR curated interactions for PLD1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for PLD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006654 phosphatidic acid biosynthetic process TAS --
GO:0006935 chemotaxis TAS --
GO:0007264 small GTPase mediated signal transduction TAS 8530346
GO:0007265 Ras protein signal transduction TAS --
genes like me logo Genes that share ontologies with PLD1: view

Drugs & Compounds for PLD1 Gene

(25) Drugs for PLD1 Gene - From: DrugBank, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Choline Approved Nutra Target, product of 223
Miltefosine Approved, Investigational Pharma Enzyme, substrate PI3K/Akt inhibitor 41
Choline salicylate Approved Nutra Target, product of 0
Water Approved Pharma 0
Ethanolamine Experimental Pharma 0

(33) Additional Compounds for PLD1 Gene - From: Novoseek, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • (2-Acetyloxy-3-octadec-9-enoxypropyl) 2-trimethylazaniumylethyl phosphate
  • 2-Acetyl-1-(9Z-octadecenyl)-sn-glycero-3-phosphocholine
  • PC(O-18:1(9Z)/2:0)
  • 1-(Hexadec-1-enyl)-2-palmitoyl-sn-glycero-3-phosphoethanolamine zwitterion
  • 1-[(1Z)-Hexadec-1-enyl]-2-hexadecanoyl-sn-glycero-3-phosphoethanolamine zwitterion
  • 1-[(1Z)-Hexadec-1-enyl]-2-palmitoyl-sn-glycero-3-phosphoethanolamine zwitterion
  • PE(P-16:0/16:0)
  • 2-Hexadecanoyl-1-(1Z-hexadecenyl)-sn-glycero-3-phosphoethanolamine
  • 1-(1-Enyl-palmitoyl)-2-vaccenoyl-sn-glycero-3-phosphoethanolamine
  • GPEtn(16:0/18:1)
  • GPEtn(16:0/18:1n7)
  • GPEtn(16:0/18:1W7)
  • GPEtn(34:1)
Phosphatidylcholines Group A
  • (Z,Z)-(1)-(7-Oleoyl-4-oxido-10-oxo-3,5,9-trioxa-4-phosphaheptacos-18-enyl)trimethylammonium 4-oxide
  • (Z,Z)-4-Hydroxy-N,N,N-trimethyl-10-oxo-7-[(1-oxo-9-octadecenyl)oxy]-3,5,9-trioxa-4-phosphaheptacos-18-en-1-aminium 4-oxide hydroxide inner salt
  • 1,2-Dioleoyl-rac-glycero-3-phosphocholine
  • 1,2-Dioleoylglycerol-3-phosphorylcholine
  • 1,2-Dioleoylglyceryl-3-phosphorylcholine
Phosphatidylcholines Group B
  • 1-Hexadecyl-2-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phosphocholine
  • 2-(9Z,12Z-Octadecadienoyl)-1-hexadecyl-sn-glycero-3-phosphocholine
  • PC Ae C34:2
  • PC(16:0E/18:2(9Z,12Z))
  • PC(O-34:2)

(5) Tocris Compounds for PLD1 Gene

Compound Action Cas Number
AACOCF3 Phospholipase A2 inhibitor 149301-79-1
Edelfosine Selective PI-PLC inhibitor, also PAF receptor agonist 77286-66-9
m-3M3FBS Phospholipase C activator 200933-14-8
o-3M3FBS Inactive analog of m-3M3FBS (Cat. No. 1941) 313981-55-4
U 73122 Phospholipase C inhibitor 112648-68-7
genes like me logo Genes that share compounds with PLD1: view

Transcripts for PLD1 Gene

mRNA/cDNA for PLD1 Gene

9 NCBI additional mRNA sequence :
17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLD1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PLD1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24a ·
SP1: - - -
SP2: - - - -

ExUns: 24b ^ 25 ^ 26a · 26b ^ 27 ^ 28a · 28b

Relevant External Links for PLD1 Gene

GeneLoc Exon Structure for

Expression for PLD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PLD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PLD1 Gene

This gene is overexpressed in Cervix (26.1) and Adrenal (13.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PLD1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PLD1

SOURCE GeneReport for Unigene cluster for PLD1 Gene:


mRNA Expression by UniProt/SwissProt for PLD1 Gene:

Tissue specificity: Expressed abundantly in the pancreas and heart and at high levels in brain, placenta, spleen, uterus and small intestine.

Evidence on tissue expression from TISSUES for PLD1 Gene

  • Nervous system(4.6)
  • Muscle(4.5)
  • Liver(4.5)
  • Kidney(2.5)
  • Heart(2.5)
  • Adrenal gland(2.4)
  • Skin(2.3)
  • Spleen(2.1)
  • Lung(2.1)
  • Intestine(2.1)
  • Blood(2.1)
  • Pancreas(2.1)
genes like me logo Genes that share expression patterns with PLD1: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PLD1 Gene

Orthologs for PLD1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PLD1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PLD1 30 31
  • 99.41 (n)
(Bos Taurus)
Mammalia PRKCSH 31
  • 92 (a)
PLD1 30
  • 91 (n)
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 91 (a)
-- 31
  • 81 (a)
-- 31
  • 79 (a)
-- 31
  • 75 (a)
-- 31
  • 73 (a)
(Monodelphis domestica)
Mammalia PLD1 31
  • 90 (a)
(Canis familiaris)
Mammalia PLD1 30 31
  • 87.8 (n)
(Mus musculus)
Mammalia Pld1 30 17 31
  • 84.68 (n)
(Rattus norvegicus)
Mammalia Pld1 30
  • 84.46 (n)
(Gallus gallus)
Aves PLD1 30 31
  • 74.54 (n)
(Anolis carolinensis)
Reptilia PLD1 31
  • 30 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pld1 30
  • 72.92 (n)
(Danio rerio)
Actinopterygii pld1b 31
  • 68 (a)
pld1a 30 31
  • 67.07 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Pld 31 32
  • 30 (a)
(Caenorhabditis elegans)
Secernentea pld-1 30 31 32
  • 53.62 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SPO14 31
  • 19 (a)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons PLDP1 30
  • 50.31 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 39 (a)
Species where no ortholog for PLD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for PLD1 Gene

Gene Tree for PLD1 (if available)
Gene Tree for PLD1 (if available)
Evolutionary constrained regions (ECRs) for PLD1: view image

Paralogs for PLD1 Gene

Paralogs for PLD1 Gene

(1) SIMAP similar genes for PLD1 Gene using alignment to 4 proteins:

  • C9IY79_HUMAN
  • H7C0L3_HUMAN
genes like me logo Genes that share paralogs with PLD1: view

Variants for PLD1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PLD1 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
708886 Benign: not provided 171,603,233(-) C/T MISSENSE_VARIANT
708887 Benign: not provided 171,662,111(-) G/A SYNONYMOUS_VARIANT
708888 Benign: not provided 171,737,907(-) G/C MISSENSE_VARIANT
711375 Likely Benign: not provided 171,699,752(-) C/T MISSENSE_VARIANT
724088 Likely Benign: not provided 171,737,949(-) A/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for PLD1 Gene

Structural Variations from Database of Genomic Variants (DGV) for PLD1 Gene

Variant ID Type Subtype PubMed ID
esv2424106 CNV deletion 19546169
esv2550334 CNV deletion 19546169
esv2726206 CNV deletion 23290073
esv3598651 CNV loss 21293372
nsv1001697 CNV loss 25217958
nsv1114451 CNV deletion 24896259
nsv1133564 CNV deletion 24896259
nsv7356 OTHER inversion 18451855
nsv822343 CNV loss 20364138

Variation tolerance for PLD1 Gene

Residual Variation Intolerance Score: 87.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.58; 65.17% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PLD1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLD1 Gene

Disorders for PLD1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for PLD1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cardiac valvular defect, developmental
  • cvdd
coffin-lowry syndrome
  • cls
kidney clear cell sarcoma
  • childhood kidney clear cell sarcoma
amyotrophic lateral sclerosis 1
  • als1
- elite association - COSMIC cancer census association via MalaCards
Search PLD1 in MalaCards View complete list of genes associated with diseases


  • Cardiac valvular defect, developmental (CVDD) [MIM:212093]: An autosomal recessive form of congenital heart defects, characterized by valvular malformations involving the pulmonic, tricuspid and mitral valves. {ECO:0000269 PubMed:27799408}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PLD1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with PLD1: view

No data available for Genatlas for PLD1 Gene

Publications for PLD1 Gene

  1. Interaction of the type Ialpha PIPkinase with phospholipase D: a role for the local generation of phosphatidylinositol 4, 5-bisphosphate in the regulation of PLD2 activity. (PMID: 11032811) Divecha N … D'Santos C (The EMBO journal 2000) 3 4 23
  2. Characterization of human PLD2 and the analysis of PLD isoform splice variants. (PMID: 9761774) Steed PM … Lasala DJ (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 1998) 3 4 23
  3. Cloning and initial characterization of a human phospholipase D2 (hPLD2). ADP-ribosylation factor regulates hPLD2. (PMID: 9582313) Lopez I … Lambeth JD (The Journal of biological chemistry 1998) 3 4 23
  4. Characterization of two alternately spliced forms of phospholipase D1. Activation of the purified enzymes by phosphatidylinositol 4,5-bisphosphate, ADP-ribosylation factor, and Rho family monomeric GTP-binding proteins and protein kinase C-alpha. (PMID: 9013646) Hammond SM … Morris AJ (The Journal of biological chemistry 1997) 3 4 23
  5. Human ADP-ribosylation factor-activated phosphatidylcholine-specific phospholipase D defines a new and highly conserved gene family. (PMID: 8530346) Hammond SM … Frohman MA (The Journal of biological chemistry 1995) 2 3 4

Products for PLD1 Gene

Sources for PLD1 Gene