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Aliases for PLD1 Gene

Aliases for PLD1 Gene

  • Phospholipase D1 2 3 5
  • Choline Phosphatase 1 2 4
  • EC 3.1.4.4 4 61
  • Phosphatidylcholine-Hydrolyzing Phospholipase D1 4
  • Phospholipase D1, Phosphatidylcholine-Specific 2
  • PLD 1 4
  • HPLD1 4

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. Among its related pathways are Metabolism and Acyl chain remodelling of PE. 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 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 PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PLD1 Gene

Genomics for PLD1 Gene

Regulatory Elements for PLD1 Gene

Enhancers for PLD1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03F171787 1 Ensembl ENCODE 28.4 +20.5 20532 5.9 FEZF1 ZNF2 ELK1 FOS TSHZ1 REST TBX21 ZNF623 ZNF264 SSRP1 PLD1 TMEM212 FNDC3B ECT2 ENSG00000234594
GH03F171781 0.9 Ensembl ENCODE 26.1 +28.5 28535 2.4 ESRRA PKNOX1 BHLHE40 ZNF7 HIC1 ZNF664 ZNF366 SCRT2 IKZF1 HMBOX1 PLD1 TMEM212 ECT2 ENSG00000234594
GH03F171776 1.6 FANTOM5 Ensembl ENCODE 21.4 +33.4 33350 3.2 HDGF CTCF PKNOX1 WRNIP1 ZMYM3 EBF1 ZKSCAN1 RAD51 ZNF610 IKZF1 PLD1 FNDC3B TMEM212 ENSG00000234594
GH03F171804 1.3 FANTOM5 Ensembl ENCODE 19.1 +2.3 2263 9.3 MLX CREB3L1 FEZF1 DMAP1 YY1 SLC30A9 ZNF263 SP3 TBX21 MEF2D PLD1 FNDC3B TMEM212 ECT2 TNIK ENSG00000234594
GH03F171800 1.3 FANTOM5 Ensembl ENCODE 16.4 +8.8 8821 3.3 HDGF PKNOX1 FEZF1 ZNF2 ZNF121 FOS TSHZ1 TBX21 ZNF264 MAFF PLD1 TMEM212 FNDC3B ENSG00000234594
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around PLD1 on UCSC Golden Path with GeneCards custom track

Promoters for PLD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001486058 950 2001 HDGF MLX WRNIP1 ARID4B SIN3A FEZF1 ZNF2 YY1 FOS KLF13

Genomic Location for PLD1 Gene

Chromosome:
3
Start:
171,600,405 bp from pter
End:
171,810,950 bp from pter
Size:
210,546 bases
Orientation:
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:
    Q13393-PLD1_HUMAN
    Recommended name:
    Phospholipase D1
    Protein Accession:
    Q13393

    Protein attributes for PLD1 Gene

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

    Alternative splice isoforms for PLD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PLD1 Gene

Selected DME Specific Peptides for PLD1 Gene

Q13393:
  • EYQAGRFA
  • KEVELAL
  • TAHELRYQVPG
  • YIENQFF
  • HYIYIENQ
  • ARHFIQRWNFTK
  • SQLSFIHDLGPKG
  • KDWVQLD
  • VKDSFLLYM
  • LHPNIKVMRHPD
  • MDGKEYQAG
  • HSKLLIADD
  • LWAHHEKL
  • IGSANIN
  • FLKDHRFGSYAA
  • KYRSLSYPFLLPKSQ
  • LGKRDSE
  • EEIFITDWWLSPE
  • LAKWYVNAKGYFED
  • LPGFEGDISTGGGN
  • DLAYGRWDD
  • EEPREMPSLPRSSEN
  • RHTFRRQNV
  • HHEKLVI
  • GRRKQLEDYLTKILKMPMYRNYHATTEFLD
  • CYRWSKRWL
  • WQVKRKFKHFQEFHRELLKYKAFIRIPIPT

Post-translational modifications for PLD1 Gene

  • Ubiquitination at Lys 189
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PLD1 (PLD1)

Domains & Families for PLD1 Gene

Gene Families for PLD1 Gene

Suggested Antigen Peptide Sequences for PLD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q13393

UniProtKB/Swiss-Prot:

PLD1_HUMAN :
  • Contains 1 PH domain.
  • Belongs to the phospholipase D family.
Domain:
  • Contains 1 PH domain.
  • Contains 2 PLD phosphodiesterase domains.
  • Contains 1 PX (phox homology) domain.
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

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
UniProtKB/Swiss-Prot CatalyticActivity:
A phosphatidylcholine + H(2)O = choline + a phosphatidate.
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.
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).

Enzyme Numbers (IUBMB) 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

Animal Models for PLD1 Gene

MGI Knock Outs for PLD1:

Animal Model Products

miRNA for PLD1 Gene

miRTarBase miRNAs that target PLD1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , 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

COMPARTMENTS
Jensen Localization Image for PLD1 Gene COMPARTMENTS Subcellular localization image for PLD1 gene
Compartment Confidence
endoplasmic reticulum 5
endosome 5
golgi apparatus 5
lysosome 5
plasma membrane 5
vacuole 5
cytosol 4
nucleus 4
cytoskeleton 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 IDA 17897319
GO:0005768 endosome IDA 14718562
GO:0005783 endoplasmic reticulum IEA --
genes like me logo Genes that share ontologies with PLD1: view

Pathways & Interactions for PLD1 Gene

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

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 10848592
GO:0007264 small GTPase mediated signal transduction TAS 8530346
GO:0007265 Ras protein signal transduction TAS 10848592
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 148
Miltefosine Approved Pharma Enzyme, substrate PI3K/Akt inhibitor 34
Water Approved Pharma 0
Ethanolamine Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
PC(18:1(9Z)e/2:0)
  • (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)
PE(P-16:0e/16:0)
  • 2-Hexadecanoyl-1-(1Z-hexadecenyl)-sn-glycero-3-phosphoethanolamine
PEP-16:0/18:1(11Z))
  • 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
68737-67-7
Phosphatidylcholines Group B
  • 1-(1-Enyl-palmitoyl)-2-stearidonoyl-sn-glycero-3-phosphocholine
  • GPCho(16:0/18:4)
  • GPCho(16:0/18:4n3)
  • GPCho(16:0/18:4w3)
  • GPCho(34:4)
88542-95-4

(5) Tocris Compounds for PLD1 Gene

Compound Action Cas Number
D609 Selective PC-PLC inhibitor 83373-60-8
m-3M3FBS Phospholipase C activator 200933-14-8
U 73343 Analog of U 73122 (Cat. No. 1268) 142878-12-4
VU 0155069 Potent and selective PLD1 inhibitor 1130067-06-9
VU 0364739 hydrochloride Potent and selective PLD2 inhibitor 1244640-48-9
genes like me logo Genes that share compounds with PLD1: view

Transcripts for PLD1 Gene

Unigene Clusters for PLD1 Gene

Phospholipase D1, phosphatidylcholine-specific:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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: - - - -
SP3:
SP4:

ExUns: 24b ^ 25 ^ 26a · 26b ^ 27 ^ 28a · 28b
SP1:
SP2:
SP3:
SP4:

Relevant External Links for PLD1 Gene

GeneLoc Exon Structure for
PLD1
ECgene alternative splicing isoforms for
PLD1

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, PaxDb, MaxQB, and MOPED for PLD1 Gene



NURSA nuclear receptor signaling pathways regulating expression of PLD1 Gene:

PLD1

SOURCE GeneReport for Unigene cluster for PLD1 Gene:

Hs.382865

mRNA Expression by UniProt/SwissProt for PLD1 Gene:

Q13393-PLD1_HUMAN
Tissue specificity: Expressed abundantly in the pancreas and heart and at high levels in brain, placenta, spleen, uterus and small intestine.
genes like me logo Genes that share expression patterns with PLD1: view

Primer Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners 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
chimpanzee
(Pan troglodytes)
Mammalia PLD1 34 35
  • 99.41 (n)
cow
(Bos Taurus)
Mammalia PRKCSH 35
  • 92 (a)
OneToOne
PLD1 34
  • 91 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 91 (a)
OneToMany
-- 35
  • 81 (a)
OneToMany
-- 35
  • 79 (a)
OneToMany
-- 35
  • 75 (a)
OneToMany
-- 35
  • 73 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia PLD1 35
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PLD1 34 35
  • 87.8 (n)
mouse
(Mus musculus)
Mammalia Pld1 34 16 35
  • 84.68 (n)
rat
(Rattus norvegicus)
Mammalia Pld1 34
  • 84.46 (n)
chicken
(Gallus gallus)
Aves PLD1 34 35
  • 74.54 (n)
lizard
(Anolis carolinensis)
Reptilia PLD1 35
  • 30 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pld1 34
  • 72.92 (n)
zebrafish
(Danio rerio)
Actinopterygii pld1b 35
  • 68 (a)
OneToMany
pld1a 34 35
  • 67.07 (n)
fruit fly
(Drosophila melanogaster)
Insecta Pld 36 35
  • 46 (a)
worm
(Caenorhabditis elegans)
Secernentea pld-1 36 34 35
  • 53.62 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SPO14 35
  • 19 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons PLDP1 34
  • 50.31 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 39 (a)
OneToMany
Species where no ortholog for PLD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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

ENSEMBL:
Gene Tree for PLD1 (if available)
TreeFam:
Gene Tree for PLD1 (if available)

Paralogs for PLD1 Gene

Paralogs for PLD1 Gene

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

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

Variants for PLD1 Gene

Sequence variations from dbSNP and Humsavar for PLD1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs556433569 Likely pathogenic 171,644,922(+) TGAAG(C/T)GCATG nc-transcript-variant, reference, missense
rs10049336 -- 171,675,928(+) aactc(C/T)gcctc intron-variant
rs10222579 -- 171,681,034(+) CCTCC(A/G)TAAAC intron-variant
rs10513698 -- 171,707,864(+) CAGAC(A/T)ACCGA intron-variant
rs1054253 -- 171,601,035(-) TACCT(C/T)TAAGC nc-transcript-variant, utr-variant-3-prime

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)

Relevant External Links for PLD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLD1

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

Disorders for PLD1 Gene

Relevant External Links for PLD1

Genetic Association Database (GAD)
PLD1
Human Genome Epidemiology (HuGE) Navigator
PLD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PLD1

No disorders were found for PLD1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and 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. (EMBO J. 2000) 3 4 22 64
  2. Cloning and initial characterization of a human phospholipase D2 (hPLD2). ADP-ribosylation factor regulates hPLD2. (PMID: 9582313) Lopez I. … Lambeth J.D. (J. Biol. Chem. 1998) 3 4 22 64
  3. 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 S.M. … Morris A.J. (J. Biol. Chem. 1997) 3 4 22 64
  4. Human ADP-ribosylation factor-activated phosphatidylcholine-specific phospholipase D defines a new and highly conserved gene family. (PMID: 8530346) Hammond S.M. … Frohman M.A. (J. Biol. Chem. 1995) 2 3 4 64
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64

Products for PLD1 Gene