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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

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HGNC Alias symbKIAA0581
HGNC Alias namephosphoinositide phospholipase C
HGNC Previous namephospholipase C, beta 1 (phosphoinositide-specific)
LocusID (NCBI) 23236
Atlas_Id 41742
Location 20p12.3  [Link to chromosome band 20p12]
Location_base_pair Starts at 8132266 and ends at 8884900 bp from pter ( according to GRCh38/hg38-Dec_2013)  [Mapping PLCB1.png]
Local_order between the markers D20S917 and D20S177
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
PLCB1 (20p12.3)::GPCPD1 (20p12.3)PLCB1 (20p12.3)::GTF2A1 (14q31.1)PLCB1 (20p12.3)::NLGN2 (17p13.1)
PLCB1 (20p12.3)::PLCB1 (20p12.3)PLCB1 (20p12.3)::WTIP (19q13.11)PLCB4 (20p12.2)::PLCB1 (20p12.3)
TASP1 (20p12.1)::PLCB1 (20p12.3)ZSWIM4 (19p13.13)::PLCB1 (20p12.3)


  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.


  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.


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

Implicated in

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.


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
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
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
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
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


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 ]

External links

HGNC (Hugo)PLCB1   15917
Entrez_Gene (NCBI)PLCB1    phospholipase C beta 1
AliasesDEE12; EIEE12; PI-PLC; PLC-154; 
PLC-I; PLC-beta-1; PLC154; PLCB1A; PLCB1B
GeneCards (Weizmann)PLCB1
Ensembl hg19 (Hinxton)ENSG00000182621 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000182621 [Gene_View]  ENSG00000182621 [Sequence]  chr20:8132266-8884900 [Contig_View]  PLCB1 [Vega]
ICGC DataPortalENSG00000182621
TCGA cBioPortalPLCB1
Genatlas (Paris)PLCB1
SOURCE (Princeton)PLCB1
Genetics Home Reference (NIH)PLCB1
Genomic and cartography
GoldenPath hg38 (UCSC)PLCB1  -     chr20:8132266-8884900 +  20p12.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PLCB1  -     20p12.3   [Description]    (hg19-Feb_2009)
GoldenPathPLCB1 - 20p12.3 [CytoView hg19]  PLCB1 - 20p12.3 [CytoView hg38]
Genome Data Viewer NCBIPLCB1 [Mapview hg19]  
OMIM607120   613722   
Gene and transcription
Genbank (Entrez)AB011153 AJ278313 AJ278314 AK023689 AK127693
RefSeq transcript (Entrez)NM_015192 NM_182734
Consensus coding sequences : CCDS (NCBI)PLCB1
Gene ExpressionPLCB1 [ NCBI-GEO ]   PLCB1 [ EBI - ARRAY_EXPRESS ]   PLCB1 [ SEEK ]   PLCB1 [ MEM ]
Gene Expression Viewer (FireBrowse)PLCB1 [ Firebrowse - Broad ]
GenevisibleExpression of PLCB1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23236
GTEX Portal (Tissue expression)PLCB1
Human Protein AtlasENSG00000182621-PLCB1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)PLCB1
Human Protein Atlas [tissue]ENSG00000182621-PLCB1 [tissue]
Protein Interaction databases
Ontologies - Pathways
PubMed128 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Oct 8 21:25:21 CEST 2021

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