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PLCB1 (phospholipase C, beta 1 (phosphoinositide-specific))

Written2005-12Matilde Y. Follo, Vincenza Rita Lo Vasco, Giovanni Martinelli, Giandomenico Palka, Lucio Cocco
Cellular Signalling Laboratory, Department of Anatomical Sciences, University of Bologna, Via Irnerio, 48 I-40126 Bologna, Italy

(Note : for Links provided by Atlas : click)

Identity

Other namesEIEE12
PI-PLC
PLC-154
PLC-I
PLC-beta-1
PLC154
PLCB1A
PLCB1B
HGNC (Hugo) PLCB1
LocusID (NCBI) 23236
Atlas_Id 41742
Location 20p12.3
Location_base_pair Starts at 8112912 and ends at 8865547 bp from pter ( according to hg19-Feb_2009)  [Mapping]
Local_order between the markers D20S917 and D20S177
Fusion genes
(updated 2016)
PLCB1 (20p12.3) / GPCPD1 (20p12.3)PLCB1 (20p12.3) / GTF2A1 (14q31.1)PLCB1 (20p12.3) / NLGN2 (17p13.1)
PLCB1 (20p12.3) / PLCB1 (20p12.3)PLCB4 (20p12.2) / PLCB1 (20p12.3)TASP1 (20p12.1) / PLCB1 (20p12.3)
ZSWIM4 (19p13.13) / PLCB1 (20p12.3)

DNA/RNA

 
  Panel A: structure of PLCB1a and PLCB1b human cDNAs. Upper, PLCB1a; middle, PLCB1b; lower, PLCB1b with different 3'- UTR.
Panel B: structure of the splicing variant lacking exons 4 9.
Description 33 small exons and introns spanning about 250 kbp.
Transcription By alternative splicing at the 3-prime end the gene produces 2 variants: PLCB1a (1.216 aminoacids, 6705 bp mRNA) and PLCB1b (1.173 aminoacids, 6823 bp mRNA). An additional exon at the 5-prime end was identified, which gives a smaller isoform, and another PLCB1b isoform, which is produced by using an alternative 3'-UTR.
Pseudogene No known pseudogenes.

Protein

 
  PH = Pleckstrin Homology Domain; EF = EF-Hand Domain;
X and Y = Catalytic Domain;
C2 = Calcium-binding Domain;
NLS = Nuclear Localisation Signal (common to both isoforms);
NES = Nuclear Export Signal
Description PLC beta1 contains a PH-domain at the NH2-terminus, which is present in many signalling proteins, that binds to polyphosphoinositides and to inositol phosphates. Two additional modules are also present: an EF-hand domain, located between the PH and X domains, and a C2 domain, which is sometimes represented as part of an extended Y domain.
Expression PLC beta1 is ubiquitous at different levels of expression: higher signal intensities were observed in some CNS areas, such as the amygdala, caudate nucleus, and hippocampus, and PLCB1a appeared to be expressed at slightly higher levels in most tissues. PCR analysis of embryonic and adult rat tissues indicated restricted expression of both isoforms to embryonic and adult brain, with lower levels of expression in lung and testis.
Localisation By using confocal immunolocalization of endogenous or transfected epitope-tagged PLC beta1, for subcellular localisation it has been shown that PLCB1a is within the cytoplasm and at the plasma membrane but localises also in the nucleus. PLCB1b is almost completely nuclear.
Function Phospholipase C-beta (PLC beta) catalyzes the generation of inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) from phosphatidylinositol 4,5-bisphosphate (IP2), a key step in the intracellular transduction of many extracellular signals. PLCB1 is one of several mammalian PLCB isoforms which differ in their function and expression patterns in vivo. PLC beta1 protein is present in the nucleus and is involved in the control of the cell cycle.
Homology 96% with bovine PLC beta1; The amino acid sequences of PLC isozymes are relatively not conserved except for two regions, known as the X and Y domains that form the catalytic core which is 60% homologous among all mammalian isozymes.

Mutations

Note Until now only deletions have been relevated by using FISH analysis.

Implicated in

Note
Entity Myelodysplastic Syndrome
Note Transition from Myelodysplastic Syndrome to Acute Myeloid Leukemia
Disease In patients with normal GTG banding karyotype affected by Myelodysplastic Syndrome (MDS) (9 patients) and with Acute Myeloid Leukemia (AML) (6 patients), a monoallelic loss of the PLCB1 gene was detected. All the MDS patients, even though with normal karyotype, belonged to the high-risk group as scored by IPSS and FAB classifications. Out of 9 MDS patients with normal karyotype 4 had monoallelic deletion of the PLC beta1 gene, and all 4 died within 1 to 6 months after developing AML, compared to survival of over 30 months in the 5 MDS patients without the deletion. Two of 6 AML patients with normal karyotype had a monoallelic deletion of the PLCB1 gene; these 2 patients had a reduced survival (1 to 12 months) compared to the AML patients without the deletion (20 to 29 months). These evidences suggest a possible role for PLC beta1 in the progression of MDS to AML in high-risk patients.
Prognosis Worse in patients having the deletion of the PLC beta1 gene.
Cytogenetics FISH performed using a 115.000 bp probe (PAC clone 881E24) spanning from exon 19 to 32 of the gene.
FISH analysis, using KIAA 0581, i.e., part of human PLC beta1 cDNA, of human metaphases showing signals on both chromosomes 20 at band p12. (a) Q-Like banding; (b) fluorescence signals detected by FISH; (c) a partial karyotype along with a human chromosome 20 ideogram. (d) A schematic representation of the 1.9 cM interval, flanked by microsatellite markers D20S917 and D20S977, to which human PLC beta1 maps.
Oncogenesis PLC beta1 is a key player in the control of cell cycle, namely the physiological progression through the G1 phase, in that the nuclear PLC beta1 evoked signalling targets the cyclin D3/cdk4 complex which phosphorylates retinoblastoma protein (pRb) that in turn activates the transcription factor E2F-1. Possibly alterations of this pathway could be involved in malignancies.
  

Bibliography

Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.
Nagase T, Ishikawa K, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O
DNA research : an international journal for rapid publication of reports on genes and genomes. 1998 ; 5 (1) : 31-39.
PMID 9628581
 
Cloning and characterization of the human phosphoinositide-specific phospholipase C-beta 1 (PLC beta 1).
Caricasole A, Sala C, Roncarati R, Formenti E, Terstappen GC
Biochimica et biophysica acta. 2000 ; 1517 (1) : 63-72.
PMID 11118617
 
Identification and chromosomal localisation by fluorescence in situ hybridisation of human gene of phosphoinositide-specific phospholipase C beta(1).
Peruzzi D, Calabrese G, Faenza I, Manzoli L, Matteucci A, Gianfrancesco F, Billi AM, Stuppia L, Palka G, Cocco L
Biochimica et biophysica acta. 2000 ; 1484 (2-3) : 175-182.
PMID 10760467
 
Molecular characterization of the human PLC beta1 gene.
Peruzzi D, Aluigi M, Manzoli L, Billi AM, Di Giorgio FP, Morleo M, Martelli AM, Cocco L
Biochimica et biophysica acta. 2002 ; 1584 (1) : 46-54.
PMID 12213492
 
Inositide-specific phospholipase c beta1 gene deletion in the progression of myelodysplastic syndrome to acute myeloid leukemia.
Lo Vasco VR, Calabrese G, Manzoli L, Palka G, Spadano A, Morizio E, Guanciali-Franchi P, Fantasia D, Cocco L
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2004 ; 18 (6) : 1122-1126.
PMID 15085153
 

Citation

This paper should be referenced as such :
Follo, MY ; Lo, Vasco VR ; Martinelli, G ; Giandomenico, Palka G ; Cocco, L
PLCB1 (phospholipase C, beta 1 (phosphoinositide-specific))
Atlas Genet Cytogenet Oncol Haematol. 2006;10(3):154-156.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/PLCB1ID41742ch20p12.html


External links

Nomenclature
HGNC (Hugo)PLCB1   15917
Cards
AtlasPLCB1ID41742ch20p12
Entrez_Gene (NCBI)PLCB1  23236  phospholipase C beta 1
GeneCards (Weizmann)PLCB1
Ensembl hg19 (Hinxton)ENSG00000182621 [Gene_View]  chr20:8112912-8865547 [Contig_View]  PLCB1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000182621 [Gene_View]  chr20:8112912-8865547 [Contig_View]  PLCB1 [Vega]
ICGC DataPortalENSG00000182621
TCGA cBioPortalPLCB1
AceView (NCBI)PLCB1
Genatlas (Paris)PLCB1
WikiGenes23236
SOURCE (Princeton)PLCB1
Genomic and cartography
GoldenPath hg19 (UCSC)PLCB1  -     chr20:8112912-8865547 +  20p12   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PLCB1  -     20p12   [Description]    (hg38-Dec_2013)
EnsemblPLCB1 - 20p12 [CytoView hg19]  PLCB1 - 20p12 [CytoView hg38]
Mapping of homologs : NCBIPLCB1 [Mapview hg19]  PLCB1 [Mapview hg38]
OMIM607120   613722   
Gene and transcription
Genbank (Entrez)AB011153 AJ278313 AJ278314 AK023689 AK127693
RefSeq transcript (Entrez)NM_015192 NM_182734
RefSeq genomic (Entrez)NC_000020 NC_018931 NG_028168 NT_011387 NW_004929416
Consensus coding sequences : CCDS (NCBI)PLCB1
Cluster EST : UnigeneHs.431173 [ NCBI ]
CGAP (NCI)Hs.431173
Alternative Splicing GalleryENSG00000182621
Gene ExpressionPLCB1 [ NCBI-GEO ]   PLCB1 [ EBI - ARRAY_EXPRESS ]   PLCB1 [ SEEK ]   PLCB1 [ MEM ]
Gene Expression Viewer (FireBrowse)PLCB1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23236
GTEX Portal (Tissue expression)PLCB1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NQ66 (Uniprot)
NextProtQ9NQ66  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NQ66
Splice isoforms : SwissVarQ9NQ66 (Swissvar)
Catalytic activity : Enzyme3.1.4.11 [ Enzyme-Expasy ]   3.1.4.113.1.4.11 [ IntEnz-EBI ]   3.1.4.11 [ BRENDA ]   3.1.4.11 [ KEGG ]   
PhosPhoSitePlusQ9NQ66
Domaine pattern : Prosite (Expaxy)C2 (PS50004)    PIPLC_X_DOMAIN (PS50007)    PIPLC_Y_DOMAIN (PS50008)   
Domains : Interpro (EBI)C2_dom    EF-hand-dom_pair    PH_dom-like    PI-PLC_fam    PLC-beta    PLC-beta1    PLC-beta_C    PLC-beta_CS    PLC-like_Pdiesterase_TIM-brl    PLC_EF-hand-like    PLipase_C_PInositol-sp_X_dom    PLipase_C_Pinositol-sp_Y   
Domain families : Pfam (Sanger)DUF1154 (PF06631)    EF-hand_like (PF09279)    PI-PLC-X (PF00388)    PI-PLC-Y (PF00387)    PLC-beta_C (PF08703)   
Domain families : Pfam (NCBI)pfam06631    pfam09279    pfam00388    pfam00387    pfam08703   
Domain families : Smart (EMBL)C2 (SM00239)  PLCXc (SM00148)  PLCYc (SM00149)  
DMDM Disease mutations23236
Blocks (Seattle)PLCB1
SuperfamilyQ9NQ66
Human Protein AtlasENSG00000182621
Peptide AtlasQ9NQ66
HPRD06177
IPIIPI00219563   IPI00395561   IPI00976468   IPI00216924   IPI01013139   IPI00216920   IPI00641825   
Protein Interaction databases
DIP (DOE-UCLA)Q9NQ66
IntAct (EBI)Q9NQ66
FunCoupENSG00000182621
BioGRIDPLCB1
STRING (EMBL)PLCB1
ZODIACPLCB1
Ontologies - Pathways
QuickGOQ9NQ66
Ontology : AmiGOG2/M transition of mitotic cell cycle  nuclear chromatin  phosphatidylinositol phospholipase C activity  phosphatidylinositol phospholipase C activity  phosphatidylinositol phospholipase C activity  signal transducer activity  GTPase activator activity  calcium ion binding  protein binding  calmodulin binding  lamin binding  phosphatidylinositol-4,5-bisphosphate binding  nucleus  cytoplasm  cytosol  signal transduction  G-protein coupled acetylcholine receptor signaling pathway  glutamate receptor signaling pathway  Wnt signaling pathway, calcium modulating pathway  memory  regulation of G-protein coupled receptor protein signaling pathway  lipid catabolic process  nuclear speck  enzyme binding  cerebral cortex development  nuclear membrane  positive regulation of interleukin-12 production  intracellular signal transduction  interleukin-12-mediated signaling pathway  interleukin-15-mediated signaling pathway  positive regulation of embryonic development  protein homodimerization activity  myelin sheath  positive regulation of GTPase activity  inositol phosphate metabolic process  fat cell differentiation  positive regulation of myoblast differentiation  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of JNK cascade  phosphatidylinositol metabolic process  insulin-like growth factor receptor signaling pathway  positive regulation of developmental growth  activation of meiosis involved in egg activation  extracellular exosome  interleukin-1-mediated signaling pathway  regulation of fertilization  positive regulation of G1/S transition of mitotic cell cycle  positive regulation of acrosome reaction  negative regulation of monocyte extravasation  positive regulation of CD24 biosynthetic process  
Ontology : EGO-EBIG2/M transition of mitotic cell cycle  nuclear chromatin  phosphatidylinositol phospholipase C activity  phosphatidylinositol phospholipase C activity  phosphatidylinositol phospholipase C activity  signal transducer activity  GTPase activator activity  calcium ion binding  protein binding  calmodulin binding  lamin binding  phosphatidylinositol-4,5-bisphosphate binding  nucleus  cytoplasm  cytosol  signal transduction  G-protein coupled acetylcholine receptor signaling pathway  glutamate receptor signaling pathway  Wnt signaling pathway, calcium modulating pathway  memory  regulation of G-protein coupled receptor protein signaling pathway  lipid catabolic process  nuclear speck  enzyme binding  cerebral cortex development  nuclear membrane  positive regulation of interleukin-12 production  intracellular signal transduction  interleukin-12-mediated signaling pathway  interleukin-15-mediated signaling pathway  positive regulation of embryonic development  protein homodimerization activity  myelin sheath  positive regulation of GTPase activity  inositol phosphate metabolic process  fat cell differentiation  positive regulation of myoblast differentiation  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of JNK cascade  phosphatidylinositol metabolic process  insulin-like growth factor receptor signaling pathway  positive regulation of developmental growth  activation of meiosis involved in egg activation  extracellular exosome  interleukin-1-mediated signaling pathway  regulation of fertilization  positive regulation of G1/S transition of mitotic cell cycle  positive regulation of acrosome reaction  negative regulation of monocyte extravasation  positive regulation of CD24 biosynthetic process  
Pathways : BIOCARTAPhospholipids as signalling intermediaries [Genes]    PKC-catalyzed phosphorylation of inhibitory phosphoprotein of myosin phosphatase [Genes]    Regulation of ck1/cdk5 by type 1 glutamate receptors [Genes]    Thrombin signaling and protease-activated receptors [Genes]    -arrestins in GPCR Desensitization [Genes]    Role of -arrestins in the activation and targeting of MAP kinases [Genes]    Phospholipase C Signaling Pathway [Genes]    Aspirin Blocks Signaling Pathway Involved in Platelet Activation [Genes]    G-Protein Signaling Through Tubby Proteins [Genes]    Roles of -arrestin-dependent Recruitment of Src Kinases in GPCR Signaling [Genes]    Cadmium induces DNA synthesis and proliferation in macrophages [Genes]    Eicosanoid Metabolism [Genes]    fMLP induced chemokine gene expression in HMC-1 cells [Genes]    Activation of PKC through G protein coupled receptor [Genes]    CCR3 signaling in Eosinophils [Genes]   
Pathways : KEGGInositol phosphate metabolism    Rap1 signaling pathway    Calcium signaling pathway    Chemokine signaling pathway    Phosphatidylinositol signaling system    Adrenergic signaling in cardiomyocytes    Vascular smooth muscle contraction    Wnt signaling pathway    Gap junction    Circadian entrainment    Long-term potentiation    Retrograde endocannabinoid signaling    Glutamatergic synapse    Cholinergic synapse    Serotonergic synapse    Dopaminergic synapse    Long-term depression    Insulin secretion    GnRH signaling pathway    Estrogen signaling pathway    Melanogenesis    Thyroid hormone synthesis    Thyroid hormone signaling pathway    Endocrine and other factor-regulated calcium reabsorption    Salivary secretion    Gastric acid secretion    Pancreatic secretion    Alzheimer's disease    Huntington's disease    Chagas disease (American trypanosomiasis)    African trypanosomiasis    Amoebiasis   
REACTOMEQ9NQ66 [protein]
REACTOME PathwaysR-HSA-416476 G alpha (q) signalling events [pathway]
REACTOME PathwaysR-HSA-416476 G alpha (q) signalling events [pathway]
REACTOME PathwaysR-HSA-500657 Presynaptic function of Kainate receptors [pathway]
REACTOME PathwaysR-HSA-434316 Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion [pathway]
REACTOME PathwaysR-HSA-399997 Acetylcholine regulates insulin secretion [pathway]
REACTOME PathwaysR-HSA-1855204 Synthesis of IP3 and IP4 in the cytosol [pathway]
REACTOME PathwaysR-HSA-4086398 Ca2+ pathway [pathway]
REACTOME PathwaysR-HSA-112043 PLC beta mediated events [pathway]
REACTOME PathwaysR-HSA-418217 G beta:gamma signalling through PLC beta [pathway]
NDEx Network
Atlas of Cancer Signalling NetworkPLCB1
Wikipedia pathwaysPLCB1
Orthology - Evolution
OrthoDB23236
GeneTree (enSembl)ENSG00000182621
Phylogenetic Trees/Animal Genes : TreeFamPLCB1
Homologs : HomoloGenePLCB1
Homology/Alignments : Family Browser (UCSC)PLCB1
Gene fusions - Rearrangements
Fusion : MitelmanPLCB1/GPCPD1 [20p12.3/20p12.3]  
Fusion: TCGAPLCB1 20p12.3 GPCPD1 20p12.3 BRCA
Polymorphisms : SNP, variants
NCBI Variation ViewerPLCB1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PLCB1
dbVarPLCB1
ClinVarPLCB1
1000_GenomesPLCB1 
Exome Variant ServerPLCB1
ExAC (Exome Aggregation Consortium)PLCB1 (select the gene name)
Genetic variants : HAPMAP23236
Genomic Variants (DGV)PLCB1 [DGVbeta]
Mutations
ICGC Data PortalPLCB1 
TCGA Data PortalPLCB1 
Broad Tumor PortalPLCB1
OASIS PortalPLCB1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPLCB1 
intOGen PortalPLCB1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PLCB1
DgiDB (Drug Gene Interaction Database)PLCB1
DoCM (Curated mutations)PLCB1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PLCB1 (select a term)
intoGenPLCB1
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)20:8112912-8865547  ENSG00000182621
CONAN: Copy Number AnalysisPLCB1 
Mutations and Diseases : HGMDPLCB1
OMIM607120    613722   
MedgenPLCB1
Genetic Testing Registry PLCB1
NextProtQ9NQ66 [Medical]
TSGene23236
GENETestsPLCB1
Huge Navigator PLCB1 [HugePedia]
snp3D : Map Gene to Disease23236
BioCentury BCIQPLCB1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23236
Chemical/Pharm GKB GenePA33384
Clinical trialPLCB1
Miscellaneous
canSAR (ICR)PLCB1 (select the gene name)
Probes
Litterature
PubMed103 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePLCB1
EVEXPLCB1
GoPubMedPLCB1
iHOPPLCB1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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