Human Gene PLCD1 (ENST00000334661.5) from GENCODE V44
Description: Homo sapiens phospholipase C delta 1 (PLCD1), transcript variant 2, mRNA. (from RefSeq NM_006225) RefSeq Summary (NM_006225): 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]. Gencode Transcript: ENST00000334661.5 Gencode Gene: ENSG00000187091.14 Transcript (Including UTRs) Position: hg38 chr3:38,007,496-38,029,642 Size: 22,147 Total Exon Count: 15 Strand: - Coding Region Position: hg38 chr3:38,007,773-38,029,539 Size: 21,767 Coding Exon Count: 15
ID:PLCD1_HUMAN DESCRIPTION: RecName: Full=1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1; EC=3.1.4.11; AltName: Full=Phosphoinositide phospholipase C-delta-1; AltName: Full=Phospholipase C-III; Short=PLC-III; AltName: Full=Phospholipase C-delta-1; Short=PLC-delta-1; 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. CATALYTIC ACTIVITY: 1-phosphatidyl-1D-myo-inositol 4,5- bisphosphate + H(2)O = 1D-myo-inositol 1,4,5-trisphosphate + diacylglycerol. COFACTOR: Binds 3 calcium ions per subunit. Two of the calcium ions are bound to the C2 domain (By similarity). DISEASE: Defects in PLCD1 are the cause of nail disorder non- syndromic congenital type 3 (NDNC3) [MIM:151600]. NDNC3 is 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). SIMILARITY: Contains 1 C2 domain. SIMILARITY: Contains 2 EF-hand domains. SIMILARITY: Contains 1 PH domain. SIMILARITY: Contains 1 PI-PLC X-box domain. SIMILARITY: Contains 1 PI-PLC Y-box domain.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P51178
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0001786 phosphatidylserine binding GO:0004435 phosphatidylinositol phospholipase C activity GO:0004629 phospholipase C activity GO:0004871 signal transducer activity GO:0005509 calcium ion binding GO:0005546 phosphatidylinositol-4,5-bisphosphate binding GO:0008081 phosphoric diester hydrolase activity GO:0016787 hydrolase activity GO:0032794 GTPase activating protein binding GO:0046872 metal ion binding GO:0070300 phosphatidic acid binding GO:1901981 phosphatidylinositol phosphate binding
Biological Process: GO:0001525 angiogenesis GO:0006629 lipid metabolic process GO:0006644 phospholipid metabolic process GO:0007165 signal transduction GO:0016042 lipid catabolic process GO:0035556 intracellular signal transduction GO:0042127 regulation of cell proliferation GO:0043647 inositol phosphate metabolic process GO:0060716 labyrinthine layer blood vessel development
BioCarta from NCI Cancer Genome Anatomy Project h_plcdPathway - Phospholipase C d1 in phospholipid associated cell signaling
Reactome (by CSHL, EBI, and GO)
Protein P51178 (Reactome details) participates in the following event(s):
R-HSA-1855221 PI(4,5)P2 is hydrolysed to I(1,4,5)P3 and DAG by tethered PLC[1] at the plasma membrane R-HSA-1855204 Synthesis of IP3 and IP4 in the cytosol R-HSA-1483249 Inositol phosphate metabolism R-HSA-1430728 Metabolism
US Server
