Free for academic non-profit institutions. Other users need a Commercial license

Aliases for PLCD1 Gene

Aliases for PLCD1 Gene

  • Phospholipase C Delta 1 2 3 5
  • Phosphoinositide Phospholipase C-Delta-1 3 4
  • Phospholipase C, Delta 1 2 3
  • Phospholipase C-III 3 4
  • PLC-Delta-1 3 4
  • EC 3.1.4.11 4 63
  • PLC-III 3 4
  • 1-Phosphatidylinositol 4,5-Bisphosphate Phosphodiesterase Delta-1 2
  • 1-Phosphatidylinositol-4,5-Bisphosphate Phosphodiesterase Delta-1 3
  • Phospholipase C-Delta-1 4
  • NDNC3 3

External Ids for PLCD1 Gene

Previous GeneCards Identifiers for PLCD1 Gene

  • GC03M037350
  • GC03U900338
  • GC03M038009

Summaries for PLCD1 Gene

Entrez Gene Summary for PLCD1 Gene

  • 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]

GeneCards Summary for PLCD1 Gene

PLCD1 (Phospholipase C Delta 1) is a Protein Coding gene. Diseases associated with PLCD1 include nail disorder, nonsyndromic congenital, 3, and leukonychia totalis. Among its related pathways are Metabolism and ERK Signaling. GO annotations related to this gene include calcium ion binding and phosphoric diester hydrolase activity. An important paralog of this gene is PLCB3.

UniProtKB/Swiss-Prot for PLCD1 Gene

  • The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. Essential for trophoblast and placental development.

Tocris Summary for PLCD1 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 PLCD1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PLCD1 Gene

Genomics for PLCD1 Gene

Regulatory Elements for PLCD1 Gene

Promoters for PLCD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PLCD1 on UCSC Golden Path with GeneCards custom track

Genomic Location for PLCD1 Gene

Chromosome:
3
Start:
38,007,496 bp from pter
End:
38,029,762 bp from pter
Size:
22,267 bases
Orientation:
Minus strand

Genomic View for PLCD1 Gene

Genes around PLCD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLCD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLCD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLCD1 Gene

Proteins for PLCD1 Gene

  • Protein details for PLCD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51178-PLCD1_HUMAN
    Recommended name:
    1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1
    Protein Accession:
    P51178
    Secondary Accessions:
    • B3KR14
    • Q86VN8

    Protein attributes for PLCD1 Gene

    Size:
    756 amino acids
    Molecular mass:
    85665 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PLCD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PLCD1 Gene

Proteomics data for PLCD1 Gene at MOPED

Selected DME Specific Peptides for PLCD1 Gene

Post-translational modifications for PLCD1 Gene

  • Glycosylation at Ser 191 and Thr 193
  • Modification sites at PhosphoSitePlus

Other Protein References for PLCD1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for PLCD1 Gene

Graphical View of Domain Structure for InterPro Entry

P51178

UniProtKB/Swiss-Prot:

PLCD1_HUMAN :
  • Contains 1 C2 domain.
Domain:
  • Contains 1 C2 domain.
  • Contains 2 EF-hand domains.
  • Contains 1 PH domain.
  • Contains 1 PI-PLC X-box domain.
  • Contains 1 PI-PLC Y-box domain.
genes like me logo Genes that share domains with PLCD1: view

Function for PLCD1 Gene

Molecular function for PLCD1 Gene

GENATLAS Biochemistry:
phospholipase C,delta 1,involved in signal transduction
UniProtKB/Swiss-Prot CatalyticActivity:
1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H(2)O = 1D-myo-inositol 1,4,5-trisphosphate + diacylglycerol.
UniProtKB/Swiss-Prot Function:
The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. Essential for trophoblast and placental development.

Enzyme Numbers (IUBMB) for PLCD1 Gene

Gene Ontology (GO) - Molecular Function for PLCD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001786 phosphatidylserine binding IEA --
GO:0004435 phosphatidylinositol phospholipase C activity IEA,TAS --
GO:0005515 protein binding IEA --
GO:0008081 phosphoric diester hydrolase activity IEA --
GO:1901981 phosphatidylinositol phosphate binding IEA --
genes like me logo Genes that share ontologies with PLCD1: view
genes like me logo Genes that share phenotypes with PLCD1: view

Human Phenotype Ontology for PLCD1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PLCD1 Gene

MGI Knock Outs for PLCD1:

Animal Model Products

miRNA for PLCD1 Gene

miRTarBase miRNAs that target PLCD1

No data available for Transcription Factor Targets and HOMER Transcription for PLCD1 Gene

Localization for PLCD1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PLCD1 Gene COMPARTMENTS Subcellular localization image for PLCD1 gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytosol 4
cytoskeleton 3
nucleus 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for PLCD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 15702972
genes like me logo Genes that share ontologies with PLCD1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PLCD1 Gene

Pathways & Interactions for PLCD1 Gene

genes like me logo Genes that share pathways with PLCD1: view

Gene Ontology (GO) - Biological Process for PLCD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IEA --
GO:0042127 regulation of cell proliferation IEA --
GO:0043647 inositol phosphate metabolic process TAS --
genes like me logo Genes that share ontologies with PLCD1: view

No data available for SIGNOR curated interactions for PLCD1 Gene

Drugs & Compounds for PLCD1 Gene

(10) Drugs for PLCD1 Gene - From: Novoseek, DrugBank, Tocris, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
D-Myo-Inositol-1,4,5-Triphosphate Experimental Pharma Target 0
D-Myo-Inositol-2,4,5-Trisphosphate Experimental Pharma Target 0
calcium Nutra 0
D609 Pharma PC-PLC inhibitor, Selective PC-PLC inhibitor 0

(398) Additional Compounds for PLCD1 Gene - From: HMDB, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Diglycerides Group A
  • 1,2-Dimyristoyl-rac-glycerol
  • DAG(14:0/14:0)
  • DAG(28:0)
  • DG(14:0/14:0)
  • DG(28:0)
Diglycerides Group B
  • 1-Palmitoleoyl-2-arachidonyl-sn-glycerol
  • DAG(16:1/20:0)
  • DAG(16:1n7/20:0)
  • DAG(16:1w7/20:0)
  • DAG(36:1)
Diglycerides Group C
  • 1-Myristoyl-3-stearoyl-sn-glycerol
  • 1-Tetradecanoyl-3-octadecanoyl-sn-glycerol
  • DAG(14:0/0:0/18:0)
  • DAG(32:0)
  • DG(32:0)
Diglycerides Group D
  • 1,2-Didocosahexaenoyl-rac-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6n3/22:6n3)
  • DAG(22:6w3/22:6w3)
  • DAG(44:12)
Inositol 1,4,5-trisphosphate
  • 1D-Myo-Inositol 1,4,5-trisphosphate
  • D-Myo-Inositol 1,4,5-trisphosphate
  • Inositol 1,4,5-trisphosphate
88269-39-0
genes like me logo Genes that share compounds with PLCD1: view

Transcripts for PLCD1 Gene

Unigene Clusters for PLCD1 Gene

Phospholipase C, delta 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PLCD1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b · 3c · 3d ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b · 7c · 7d ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^
SP1: - - - -
SP2: - -
SP3:
SP4: - - - - -
SP5:
SP6: - - - - -
SP7: - - - - - - - - - - - -
SP8: - - -
SP9:
SP10:

ExUns: 14a · 14b ^ 15a · 15b ^ 16a · 16b ^ 17 ^ 18
SP1: -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for PLCD1 Gene

GeneLoc Exon Structure for
PLCD1
ECgene alternative splicing isoforms for
PLCD1

Expression for PLCD1 Gene

mRNA expression in normal human tissues for PLCD1 Gene

Protein differential expression in normal tissues from HIPED for PLCD1 Gene

This gene is overexpressed in Spinal cord (15.0) and Brain (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PLCD1 Gene



SOURCE GeneReport for Unigene cluster for PLCD1 Gene Hs.80776

genes like me logo Genes that share expression patterns with PLCD1: view

Protein tissue co-expression partners for PLCD1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PLCD1 Gene

Orthologs for PLCD1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PLCD1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PLCD1 35
  • 89.53 (n)
  • 92.08 (a)
PLCD1 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PLCD1 35
  • 90.83 (n)
  • 94.09 (a)
PLCD1 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Plcd1 35
  • 86.44 (n)
  • 90.74 (a)
Plcd1 16
Plcd1 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PLCD1 35
  • 98.85 (n)
  • 98.76 (a)
PLCD1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Plcd1 35
  • 86.67 (n)
  • 91.14 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia PLCD1 36
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves PLCD1 35
  • 68.56 (n)
  • 68.39 (a)
PLCD1 36
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PLCD1 36
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia plcd1 35
  • 66.58 (n)
  • 64.62 (a)
zebrafish
(Danio rerio)
Actinopterygii wufj78d10 35
plcd1a 36
  • 55 (a)
OneToMany
plcd1b 36
  • 54 (a)
OneToMany
rice
(Oryza sativa)
Liliopsida Os05g0127200 35
  • 47.79 (n)
  • 37.21 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 39 (a)
OneToMany
Species with no ortholog for PLCD1:
  • 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PLCD1 Gene

ENSEMBL:
Gene Tree for PLCD1 (if available)
TreeFam:
Gene Tree for PLCD1 (if available)

Paralogs for PLCD1 Gene

Paralogs for PLCD1 Gene

(9) SIMAP similar genes for PLCD1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with PLCD1: view

Variants for PLCD1 Gene

Sequence variations from dbSNP and Humsavar for PLCD1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs933135 - 38,011,234(+) CGTAG(C/T)GCTCA nc-transcript-variant, reference, missense
VAR_066399 Nail disorder, non-syndromic congenital, 3 (NDNC3)
VAR_066400 Nail disorder, non-syndromic congenital, 3 (NDNC3)
rs722501 -- 38,029,249(-) GGTCT(A/T)AAGAC intron-variant
rs1050868 -- 38,009,115(-) AGAAT(A/C)TACCC nc-transcript-variant, reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for PLCD1 Gene

Variant ID Type Subtype PubMed ID
dgv1447e1 CNV Complex 17122850
dgv1448e1 CNV Complex 17122850
nsv428416 CNV Loss 18775914
nsv522354 CNV Loss 19592680
nsv508911 CNV Insertion 20534489
nsv509821 CNV Loss 20534489
nsv822058 CNV Gain 20364138

Variation tolerance for PLCD1 Gene

Residual Variation Intolerance Score: 24.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.17; 75.86% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PLCD1 Gene

HapMap Linkage Disequilibrium report
PLCD1
Human Gene Mutation Database (HGMD)
PLCD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLCD1 Gene

Disorders for PLCD1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for PLCD1 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
nail disorder, nonsyndromic congenital, 3,
  • nonsyndromic congenital nail disorder 3
leukonychia totalis
  • hereditary white nails
bart-pumphrey syndrome
  • knuckle pads, leukonychia, and sensorineural deafness
nail disease
  • nail diseases
reflex sympathetic dystrophy
  • reflex sympathetic dystrophy syndrome
- elite association - COSMIC cancer census association via MalaCards
Search PLCD1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PLCD1_HUMAN
  • Nail disorder, non-syndromic congenital, 3 (NDNC3) [MIM:151600]: A nail disorder characterized by a white appearance of the nail plate (true leukonychia), the nail bed (pseudoleukonychia), or neither (apparent leukonychia). Leukonychia may involve all of the nail (leukonychia totalis) or only part of the nail (leukonychia partialis), or can appear as one or more transverse bands (leukonychia striata) or white spots (leukonychia punctata). {ECO:0000269 PubMed:21665001}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PLCD1

Genetic Association Database (GAD)
PLCD1
Human Genome Epidemiology (HuGE) Navigator
PLCD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PLCD1
genes like me logo Genes that share disorders with PLCD1: view

No data available for Genatlas for PLCD1 Gene

Publications for PLCD1 Gene

  1. Cloning and identification of amino acid residues of human phospholipase C delta 1 essential for catalysis. (PMID: 7890667) Cheng H.F. … King K. (J. Biol. Chem. 1995) 3 4 23 67
  2. Genomic structure of the human PLCD1 (phospholipase C delta 1) locus on 3p22-->p21.3. (PMID: 9345909) Ishikawa S. … Nakamura Y. (Cytogenet. Cell Genet. 1997) 2 3 23
  3. The small GTPase Ral couples the angiotensin II type 1 receptor to the activation of phospholipase C-delta 1. (PMID: 20018811) Godin C.M. … Ferguson S.S. (Mol. Pharmacol. 2010) 3 23
  4. Phospholipase C delta 1 is a novel 3p22.3 tumor suppressor involved in cytoskeleton organization, with its epigenetic silencing correlated with high-stage gastric cancer. (PMID: 19448674) Hu X.T. … He C. (Oncogene 2009) 3 23
  5. Regulation of phospholipase C-delta1 by ARGHAP6, a GTPase-activating protein for RhoA: possible role for enhanced activity of phospholipase C in hypertension. (PMID: 18434237) Ochocka A.M. … Pawelczyk T. (Int. J. Biochem. Cell Biol. 2008) 3 23

Products for PLCD1 Gene

Sources for PLCD1 Gene

Back to Top

Content