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Aliases for PLCD1 Gene

Aliases for PLCD1 Gene

  • Phospholipase C Delta 1 2 3 5
  • 1-Phosphatidylinositol 4,5-Bisphosphate Phosphodiesterase Delta-1 2 3
  • Phosphoinositide Phospholipase C-Delta-1 3 4
  • Phospholipase C-III 3 4
  • PLC-Delta-1 3 4
  • EC 3.1.4.11 4 61
  • PLC-III 3 4
  • Phospholipase C, Delta 1 2
  • 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 Sweet Taste Signaling and G-Beta Gamma Signaling. GO annotations related to this gene include calcium ion binding and phosphoric diester hydrolase activity. An important paralog of this gene is PLCD3.

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

Enhancers for PLCD1 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
GH03F038028 1.1 FANTOM5 ENCODE 10.1 -0.4 -438 4.3 BCOR MAX ZMYM3 ZNF48 POLR2A RCOR1 FOS MAFK CHD2 SMARCA5 PLCD1 DLEC1
GH03F038147 1.6 FANTOM5 Ensembl ENCODE 4.3 -121.8 -121769 8.2 ATF1 ZFP64 ZNF121 GATA2 FOS NFYC REST MEF2D MAFF SMARCA4 VILL MYD88 OXSR1 TCEA1P2 ACAA1 SLC22A13 NDUFAF4P3 ACVR2B-AS1 PLCD1
GH03F038108 0.9 Ensembl 6.2 -79.1 -79139 1.0 HDAC1 ATF1 PKNOX1 ZBTB40 ZNF766 GATA2 CREM USF2 ZEB2 CREB3 TCEA1P2 NDUFAF4P3 ACVR2B-AS1 PLCD1 PIR60395 GC03M038048
GH03F038102 0.8 FANTOM5 Ensembl 6.2 -72.7 -72739 1.0 ZNF341 IKZF1 KDM1A MYD88 VILL ACAA1 SLC22A13 PLCD1 OXSR1 SLC22A14 PIR60395 GC03M038048
GH03F038037 0.8 ENCODE 5.9 -9.5 -9478 3.0 CTCF HDAC1 MXI1 ETV1 MAX SIN3A BMI1 RAD21 POLR2A RFX1 DLEC1 PLCD1 PPP2R2DP1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PLCD1 on UCSC Golden Path with GeneCards custom track

Promoters for PLCD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001361326 362 1601 BCOR SMARCA5 RNF2 ZMYM3 CEBPB REST ZNF48 POLR2A KLF16 GABPB1

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

Selected DME Specific Peptides for PLCD1 Gene

P51178:
  • KGCRCLE
  • CGYVLKP
  • SSTEAYIR
  • SSHNTYL
  • VALNFQT
  • KADKNKD
  • YPVILSLE
  • YHGYTFTSK
  • YAFKASPYP

Post-translational modifications for PLCD1 Gene

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

Other Protein References for PLCD1 Gene

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 TAS --
GO:0004629 phospholipase C activity IEA --
GO:0004871 signal transducer activity IEA --
GO:0005509 calcium ion 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

  • Taconic Biosciences Mouse Models for PLCD1

miRNA for PLCD1 Gene

miRTarBase miRNAs that target PLCD1

Inhibitory RNA Products

Flow Cytometry Products

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

Localization for PLCD1 Gene

Subcellular locations from

COMPARTMENTS
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 PLCD1 gene
Compartment Confidence
plasma membrane 5
extracellular 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
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane TAS --
GO:0070062 extracellular exosome IDA 19056867
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:0006629 lipid metabolic process IEA --
GO:0006644 phospholipid metabolic process TAS 9588182
GO:0007165 signal transduction IEA --
GO:0016042 lipid catabolic process IEA --
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: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
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

(395) 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

(2) Tocris Compounds for PLCD1 Gene

Compound Action Cas Number
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 PLCD1: view

Transcripts for PLCD1 Gene

Unigene Clusters for PLCD1 Gene

Phospholipase C, delta 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for PLCD1 Gene



Protein tissue co-expression partners for PLCD1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PLCD1 Gene:

PLCD1

SOURCE GeneReport for Unigene cluster for PLCD1 Gene:

Hs.80776
genes like me logo Genes that share expression patterns with PLCD1: view

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
chimpanzee
(Pan troglodytes)
Mammalia PLCD1 34 35
  • 98.85 (n)
dog
(Canis familiaris)
Mammalia PLCD1 34 35
  • 90.83 (n)
cow
(Bos Taurus)
Mammalia PLCD1 34 35
  • 89.53 (n)
rat
(Rattus norvegicus)
Mammalia Plcd1 34
  • 86.67 (n)
mouse
(Mus musculus)
Mammalia Plcd1 34 16 35
  • 86.44 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PLCD1 35
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves PLCD1 34 35
  • 68.56 (n)
lizard
(Anolis carolinensis)
Reptilia PLCD1 35
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia plcd1 34
  • 66.58 (n)
zebrafish
(Danio rerio)
Actinopterygii plcd1a 35
  • 55 (a)
OneToMany
plcd1b 35
  • 54 (a)
OneToMany
wufj78d10 34
rice
(Oryza sativa)
Liliopsida Os05g0127200 34
  • 47.79 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 39 (a)
OneToMany
Species where no ortholog for PLCD1 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)
  • 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
VAR_066399 Nail disorder, non-syndromic congenital, 3 (NDNC3) [MIM:151600]
VAR_066400 Nail disorder, non-syndromic congenital, 3 (NDNC3) [MIM:151600]
rs375683615 Pathogenic 38,009,108(+) TCCAG(C/T)CGGGT nc-transcript-variant, reference, missense
rs397514470 Pathogenic 38,009,945(-) TGAAC(C/T)GACCA nc-transcript-variant, reference, stop-gained
rs397514471 Pathogenic 38,011,442(-) AGGAG(C/T)GTGAC nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
nsv822058 CNV gain 20364138
nsv590101 CNV loss 21841781
nsv590094 CNV loss 21841781
nsv522354 CNV loss 19592680
nsv509821 OTHER sequence alteration 20534489
nsv508911 CNV insertion 20534489
nsv428416 CNV loss 18775914
esv2759140 CNV loss 17122850

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

Human Gene Mutation Database (HGMD)
PLCD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLCD1

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

Disorders for PLCD1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
nail disorder, nonsyndromic congenital, 3,
  • nail disorder, nonsyndromic congenital, 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