Human Gene PLCB3 (uc009ypg.2)
  Description: Homo sapiens phospholipase C, beta 3 (phosphatidylinositol-specific) (PLCB3), transcript variant 1, mRNA.
RefSeq Summary (NM_000932): This gene encodes a member of the phosphoinositide phospholipase C beta enzyme family that catalyze the production of the secondary messengers diacylglycerol and inositol 1,4,5-triphosphate from phosphatidylinositol in G-protein-linked receptor-mediated signal transduction. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010].
Transcript (Including UTRs)
   Position: hg19 chr11:64,018,995-64,036,924 Size: 17,930 Total Exon Count: 31 Strand: +
Coding Region
   Position: hg19 chr11:64,019,122-64,035,028 Size: 15,907 Coding Exon Count: 31 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:64,018,995-64,036,924)mRNA (may differ from genome)Protein (1234 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkHGNCHPRDLynxMalacardsMGI
neXtProtOMIMPubMedReactomeUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PLCB3_HUMAN
DESCRIPTION: RecName: Full=1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3; EC=3.1.4.11; AltName: Full=Phosphoinositide phospholipase C-beta-3; AltName: Full=Phospholipase C-beta-3; Short=PLC-beta-3;
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.
CATALYTIC ACTIVITY: 1-phosphatidyl-1D-myo-inositol 4,5- bisphosphate + H(2)O = 1D-myo-inositol 1,4,5-trisphosphate + diacylglycerol.
COFACTOR: Calcium.
SUBUNIT: Interacts with SHANK2 (By similarity). Interacts with LPAR2.
SUBCELLULAR LOCATION: Membrane; Peripheral membrane protein.
SIMILARITY: Contains 1 C2 domain.
SIMILARITY: Contains 1 PI-PLC X-box domain.
SIMILARITY: Contains 1 PI-PLC Y-box domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): PLCB3
CDC HuGE Published Literature: PLCB3
Positive Disease Associations: Attention Deficit Disorder with Hyperactivity
Related Studies:
  1. Attention Deficit Disorder with Hyperactivity
    Eric Mick et al. Journal of the American Academy of Child and Adolescent Psychiatry 2011, Genome-wide association study of the child behavior checklist dysregulation profile., Journal of the American Academy of Child and Adolescent Psychiatry. [PubMed 21784300]
    We found suggestive evidence for developmentally expressed genes operant in hippocampal dependent memory and learning with the CBCL-DP.

-  MalaCards Disease Associations
  MalaCards Gene Search: PLCB3
Diseases sorted by gene-association score: multiple endocrine neoplasia 1 (4)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D013749 Tetrachlorodibenzodioxin
  • C060229 1-(6-((3-methoxyestra-1,3,5(10)-trien-17-yl)amino)hexyl)-1H-pyrrole-2,5-dione
  • D015655 1-Methyl-4-phenylpyridinium
  • D019796 15-Hydroxy-11 alpha,9 alpha-(epoxymethano)prosta-5,13-dienoic Acid
  • C093973 2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one
  • C021296 2-ethoxyethanol
  • C009505 4,4'-diaminodiphenylmethane
  • D000643 Ammonium Chloride
  • D001564 Benzo(a)pyrene
  • D002117 Calcitriol
          more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 55.89 RPKM in Small Intestine - Terminal Ileum
Total median expression: 470.88 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -78.20127-0.616 Picture PostScript Text
3' UTR -811.421896-0.428 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000008 - C2_Ca-dep
IPR008973 - C2_Ca/lipid-bd_dom_CaLB
IPR018029 - C2_membr_targeting
IPR011992 - EF-hand-like_dom
IPR001192 - Pinositol_PLipase_C
IPR016280 - PLC-beta
IPR014815 - PLC-beta_C
IPR009535 - PLC-beta_CS
IPR017946 - PLC-like_Pdiesterase_TIM-brl
IPR015359 - PLipase_C_EF-hand-like
IPR000909 - PLipase_C_PInositol-sp_X_dom
IPR001711 - PLipase_C_Pinositol-sp_Y

Pfam Domains:
PF00168 - C2 domain
PF00387 - Phosphatidylinositol-specific phospholipase C, Y domain
PF00388 - Phosphatidylinositol-specific phospholipase C, X domain
PF08703 - PLC-beta C terminal
PF09279 - Phosphoinositide-specific phospholipase C, efhand-like

SCOP Domains:
47473 - EF-hand
50729 - PH domain-like
49562 - C2 domain (Calcium/lipid-binding domain, CaLB)
51695 - PLC-like phosphodiesterases

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3OHM - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q01970
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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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserGenome BrowserNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
Gene SorterGene Sorter Gene Sorter  
 RGDEnsemblFlyBase  
 Protein SequenceProtein SequenceProtein Sequence  
 AlignmentAlignmentAlignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004435 phosphatidylinositol phospholipase C activity
GO:0004629 phospholipase C activity
GO:0004871 signal transducer activity
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0005516 calmodulin binding
GO:0008081 phosphoric diester hydrolase activity
GO:0016787 hydrolase activity
GO:0045296 cadherin binding

Biological Process:
GO:0003073 regulation of systemic arterial blood pressure
GO:0006629 lipid metabolic process
GO:0007165 signal transduction
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007223 Wnt signaling pathway, calcium modulating pathway
GO:0016042 lipid catabolic process
GO:0035556 intracellular signal transduction
GO:0043647 inositol phosphate metabolic process

Cellular Component:
GO:0005654 nucleoplasm
GO:0005829 cytosol
GO:0016020 membrane
GO:0032991 macromolecular complex


-  Descriptions from all associated GenBank mRNAs
  Z26649 - H.sapiens mRNA for phospholipase C-b3.
BC146645 - Homo sapiens cDNA clone IMAGE:40147126.
BC142681 - Homo sapiens phospholipase C, beta 3 (phosphatidylinositol-specific), mRNA (cDNA clone MGC:164969 IMAGE:40148426), complete cds.
BC032659 - Homo sapiens, Similar to phospholipase C, beta 3 (phosphatidylinositol-specific), clone IMAGE:5532459, mRNA, partial cds.
AB385031 - Synthetic construct DNA, clone: pF1KB5089, Homo sapiens PLCB3 gene for phospholipase B, delta 3, complete cds, without stop codon, in Flexi system.
Z16411 - H.sapiens mRNA encoding phospholipase c.
LF211210 - JP 2014500723-A/18713: Polycomb-Associated Non-Coding RNAs.
LF344613 - JP 2014500723-A/152116: Polycomb-Associated Non-Coding RNAs.
BC041625 - Homo sapiens, Similar to phospholipase C, beta 3 (phosphatidylinositol-specific), clone IMAGE:4587831, mRNA.
MA580190 - JP 2018138019-A/152116: Polycomb-Associated Non-Coding RNAs.
MA446787 - JP 2018138019-A/18713: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00562 - Inositol phosphate metabolism
hsa01100 - Metabolic pathways
hsa04020 - Calcium signaling pathway
hsa04062 - Chemokine signaling pathway
hsa04070 - Phosphatidylinositol signaling system
hsa04270 - Vascular smooth muscle contraction
hsa04310 - Wnt signaling pathway
hsa04540 - Gap junction
hsa04720 - Long-term potentiation
hsa04730 - Long-term depression
hsa04912 - GnRH signaling pathway
hsa04916 - Melanogenesis
hsa05010 - Alzheimer's disease
hsa05016 - Huntington's disease
hsa05142 - Chagas disease

BioCyc Knowledge Library
LIPASYN-PWY - phospholipases
PWY-6351 - D-myo-inositol (1,4,5)-trisphosphate biosynthesis
PWY-6367 - D-myo-inositol-5-phosphate metabolism
PWY3DJ-219 - PIP metabolism

Reactome (by CSHL, EBI, and GO)

Protein Q01970 (Reactome details) participates in the following event(s):

R-HSA-111870 Activation of PLC beta-1/4
R-HSA-398188 PLC beta is activated by G alpha (q)
R-HSA-112037 Inactivation of PLC beta
R-HSA-398040 Gbeta:gamma activation of PLC beta
R-HSA-400023 Gq alpha activates Phospholipase C beta
R-HSA-500717 Activation of GRIK3 homomer
R-HSA-1855177 PI(4,5)P2 is hydrolysed to I(1,4,5)P3 and DAG by cytosolic PLC[2] at the plasma membrane
R-HSA-111879 PIP2 hydrolysis
R-HSA-114688 PLC-beta hydrolyses PIP2 to DAG and IP3
R-HSA-398193 PLC beta-mediated PIP2 hydrolysis
R-HSA-399998 Activated Phospholipase C beta-1 hydrolyzes 1-Phosphatidyl-D-myo-inositol 4,5-bisphosphate
R-HSA-112043 PLC beta mediated events
R-HSA-416476 G alpha (q) signalling events
R-HSA-418217 G beta:gamma signalling through PLC beta
R-HSA-4086398 Ca2+ pathway
R-HSA-399997 Acetylcholine regulates insulin secretion
R-HSA-434316 Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion
R-HSA-112040 G-protein mediated events
R-HSA-388396 GPCR downstream signalling
R-HSA-500657 Presynaptic function of Kainate receptors
R-HSA-397795 G-protein beta:gamma signalling
R-HSA-3858494 Beta-catenin independent WNT signaling
R-HSA-422356 Regulation of insulin secretion
R-HSA-400451 Free fatty acids regulate insulin secretion
R-HSA-1855204 Synthesis of IP3 and IP4 in the cytosol
R-HSA-111885 Opioid Signalling
R-HSA-372790 Signaling by GPCR
R-HSA-451326 Activation of kainate receptors upon glutamate binding
R-HSA-195721 Signaling by WNT
R-HSA-163685 Energy Metabolism
R-HSA-1483249 Inositol phosphate metabolism
R-HSA-418594 G alpha (i) signalling events
R-HSA-162582 Signal Transduction
R-HSA-112314 Neurotransmitter receptors and postsynaptic signal transmission
R-HSA-1430728 Metabolism
R-HSA-112315 Transmission across Chemical Synapses
R-HSA-112316 Neuronal System

-  Other Names for This Gene
  Alternate Gene Symbols: A5PKZ6, NM_000932, NP_000923, PLCB3_HUMAN, Q01970
UCSC ID: uc009ypg.2
RefSeq Accession: NM_000932
Protein: Q01970 (aka PLCB3_HUMAN or PIB3_HUMAN)
CCDS: CCDS8064.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_000932.2
exon count: 31CDS single in 3' UTR: no RNA size: 5728
ORF size: 3705CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 7521.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: yes # AT/AC introns 0
selenocysteine: no end bleed into intron: 1882# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.