PLCB1 phospholipase C beta 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PLCB1provided by HGNC
Official Full Name: phospholipase C beta 1provided by HGNC
Primary source: HGNC:HGNC:15917
See related: Ensembl:ENSG00000182621 MIM:607120; AllianceGenome:HGNC:15917
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DEE12; PLC-I; EIEE12; PI-PLC; PLC154; PLCB1A; PLCB1B; PLC-154; PLC-beta-1
Summary: The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of many extracellular signals. This gene is activated by two G-protein alpha subunits, alpha-q and alpha-11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression: Broad expression in brain (RPKM 18.8), salivary gland (RPKM 3.8) and 17 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20p12.3

Exon count:: 33

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (8132266..8884900)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (8174228..8928072)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (8112913..8865547)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Lnc-PLCB1 is stabilized by METTL14 induced m6A modification and inhibits Helicobacter pylori mediated gastric cancer by destabilizing DDX21.
Title: Lnc-PLCB1 is stabilized by METTL14 induced m6A modification and inhibits Helicobacter pylori mediated gastric cancer by destabilizing DDX21.
PLCB1 Enhances Cell Migration and Invasion in Gastric Cancer Via Regulating Actin Cytoskeletal Remodeling and Epithelial-Mesenchymal Transition.
Title: PLCB1 Enhances Cell Migration and Invasion in Gastric Cancer Via Regulating Actin Cytoskeletal Remodeling and Epithelial-Mesenchymal Transition.
Conformational alteration in glycan induces phospholipase Cbeta1 activation and angiogenesis.
Title: Conformational alteration in glycan induces phospholipase Cβ1 activation and angiogenesis.
MicroRNA-1297 participates in the repair of intestinal barrier injury in patients with HIV/AIDS via negative regulation of PLCbeta1.
Title: MicroRNA-1297 participates in the repair of intestinal barrier injury in patients with HIV/AIDS via negative regulation of PLCβ1.
Elevation of phospholipase C-beta1 expression by amyloid-beta facilitates calcium overload in neuronal cells.
Title: Elevation of phospholipase C-β1 expression by amyloid-β facilitates calcium overload in neuronal cells.
Impact of phospholipase C beta1 in glioblastoma: a study on the main mechanisms of tumor aggressiveness.
Title: Impact of phospholipase C β1 in glioblastoma: a study on the main mechanisms of tumor aggressiveness.
A PLCB1-PI3K-AKT Signaling Axis Activates EMT to Promote Cholangiocarcinoma Progression.
Title: A PLCB1-PI3K-AKT Signaling Axis Activates EMT to Promote Cholangiocarcinoma Progression.
Three novel patients with epileptic encephalopathy due to biallelic mutations in the PLCB1 gene.
Title: Three novel patients with epileptic encephalopathy due to biallelic mutations in the PLCB1 gene.
During osteogenic differentiation, PLC-beta1 expression varies concomitantly with cyclin E expression and the two proteins interact.
Title: Phospholipase C-β1 interacts with cyclin E in adipose- derived stem cells osteogenic differentiation.
this study revealed the important role of circ-PRKCI-miR-1324-PLCB1 regulatory network in Hirschsprung disease (HSCR), providing a novel insight for the pathogenesis of HSCR.
Title: Down-regulation of circ-PRKCI inhibits cell migration and proliferation in Hirschsprung disease by suppressing the expression of miR-1324 target PLCB1.

Submit: New GeneRIF Correction See all GeneRIFs (67)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Developmental and epileptic encephalopathy, 12 MedGen: C3150988 OMIM: 613722 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A genome-wide association study for irinotecan-related severe toxicities in patients with advanced non-small-cell lung cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common genetic variation and performance on standardized cognitive tests. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analyses in East Asians identify new susceptibility loci for colorectal cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed
TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression. EBI GWAS Catalog EBI GWAS CatalogPubMed
Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Nuclear PI-PLC beta 1 plays as a new intermediate in the gp120-triggered PC-PLC-driven signal transduction pathway leading to CCL2 secretion in macrophages	PubMed
	env	HIV-1 gp120 induces nuclear localization of the phosphoinositide-specific phospholipase C (PI-PLC) beta 1 isozyme in MDMs, which requires activation of the MAPK ERK1/2 pathway	PubMed
	env	The interaction of HIV-1 gp120 with CCR5 triggers PC-PLC activation and CCL2 secretion in human monocyte-derived macrophages	PubMed
	env	Phosphatidylcholine-specific phospholipase C (PC-PLC) signaling pathway modulates HIV-1 gp120-induced CCL2 production in human monocyte-derived macrophages	PubMed
	env	PC-PLC is an upstream regulator of HIV-1 gp120-mediated NF-kappaB activation in human monocyte-derived macrophages	PubMed
	env	HIV-1 gp120 induces cellular relocalization of PC-PLC from the cytoplasm to the plasma membrane, and stimulates its enzymatic activity in human monocyte-derived macrophages	PubMed
	env	PLC-beta activation and intracellular Ca2+ release are required for HIV-1 gp120-mediated Rac-1 activation and membrane fusion via the G-alpha(q/11) family of G proteins	PubMed
	env	HIV-1 envelope glycoproteins gp120 and gp160 directly and specifically impair the CD3/TcR-mediated activation of phospholipase C (PLC) via the CD4 molecule in uninfected T cells	PubMed
Tat	tat	Phospholipase C/protein kinase C pathway-dependent phosphorylation of p44/42 and JNK MAP kinases is partially involved in IL-1beta induction by HIV-1 Tat	PubMed
	tat	HIV-1 Tat induces release of calcium and TNF-alpha production, an effect mediated at least in part by activation of phospholipase C	PubMed
Vif	vif	HIV-1 Vif downregulates the expression of phospholipase C, beta 1 (PLCB1) in Vif-expression T cells	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AL031205 (e-PCR)
- UniSTS:71424

Plcb1 (e-PCR), detects polymorphism
- UniSTS:507150

WI-17062 (e-PCR)
- UniSTS:73487

SHGC-152473 (e-PCR)
- UniSTS:182799

D20S851 (e-PCR)
- UniSTS:10773

Z94580 (e-PCR)
- UniSTS:20767

D20S594E (e-PCR)
- UniSTS:37163

Z94354 (e-PCR)
- UniSTS:45615

SHGC-151239 (e-PCR)
- UniSTS:173616

AL031206 (e-PCR)
- UniSTS:52548

SHGC-81474 (e-PCR)
- UniSTS:103504

PLCB1__1209 (e-PCR)
- UniSTS:277588

PLCB1__v332 (e-PCR)
- UniSTS:277588

SHGC-82613 (e-PCR)
- UniSTS:95606

RH69828 (e-PCR)
- UniSTS:23163

RH104103 (e-PCR)
- UniSTS:98428

Z94679 (e-PCR)
- UniSTS:66709

RH48470 (e-PCR)
- UniSTS:49561

A007B46 (e-PCR)
- UniSTS:3741

D20S580E (e-PCR)
- UniSTS:7842

RH92761 (e-PCR)
- UniSTS:88996

AL021622 (e-PCR)
- UniSTS:683

A006R17 (e-PCR)
- UniSTS:39851

Z94569 (e-PCR)
- UniSTS:33200

G18109 (e-PCR)
- UniSTS:82610

D20S879 (e-PCR), detects polymorphism
- UniSTS:6585

Z94672 (e-PCR)
- UniSTS:71357

Z94408 (e-PCR)
- UniSTS:2502

WI-17184 (e-PCR)
- UniSTS:30922

AFMa114xe5 (e-PCR)
- UniSTS:52938

SHGC-81138 (e-PCR)
- UniSTS:102354

STS-AA009431 (e-PCR)
- UniSTS:10198

D20S819 (e-PCR)
- UniSTS:59352

Z94577 (e-PCR)
- UniSTS:26585

Z94450 (e-PCR)
- UniSTS:16099

RH78853 (e-PCR)
- UniSTS:46819

D20S177 (e-PCR), detects polymorphism
- UniSTS:12784

D20S177 (e-PCR), detects polymorphism
- UniSTS:12785

RH123804 (e-PCR)
- UniSTS:136181

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTPase activator activity	IDA Inferred from Direct Assay more info	PubMed
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables calmodulin binding	IBA Inferred from Biological aspect of Ancestor more info
enables calmodulin binding	IDA Inferred from Direct Assay more info	PubMed
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	ISS Inferred from Sequence or Structural Similarity more info
enables lamin binding	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol phospholipase C activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol phospholipase C activity	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol phospholipase C activity	ISS Inferred from Sequence or Structural Similarity more info
enables phosphatidylinositol phospholipase C activity	NAS Non-traceable Author Statement more info	PubMed
enables phosphatidylinositol-4,5-bisphosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables phospholipase C activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled acetylcholine receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in G protein-coupled receptor signaling pathway	TAS Traceable Author Statement more info
involved_in G2/M transition of mitotic cell cycle	ISS Inferred from Sequence or Structural Similarity more info
involved_in activation of meiosis involved in egg activation	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to fluoride	IEA Inferred from Electronic Annotation more info
involved_in cellular response to glyceraldehyde	IEA Inferred from Electronic Annotation more info
involved_in cellular response to ionomycin	IEA Inferred from Electronic Annotation more info
involved_in cellular response to vasopressin	IEA Inferred from Electronic Annotation more info
involved_in cerebral cortex development	ISS Inferred from Sequence or Structural Similarity more info
involved_in fat cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in glutamate receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in inositol trisphosphate metabolic process	IEA Inferred from Electronic Annotation more info
involved_in insulin-like growth factor receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in interleukin-1-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in interleukin-12-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in interleukin-15-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in ion channel modulating, G protein-coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in learning	IEA Inferred from Electronic Annotation more info
involved_in ligand-gated ion channel signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in memory	IBA Inferred from Biological aspect of Ancestor more info
involved_in memory	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of monocyte extravasation	ISS Inferred from Sequence or Structural Similarity more info
involved_in phosphatidylinositol catabolic process	IEA Inferred from Electronic Annotation more info
involved_in phosphatidylinositol metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in phosphatidylinositol metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in phosphatidylinositol metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in phosphatidylinositol-mediated signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in phospholipase C-activating G protein-coupled acetylcholine receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of CD24 production	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of G1/S transition of mitotic cell cycle	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of JNK cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of acrosome reaction	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of developmental growth	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of embryonic development	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of insulin secretion	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of interleukin-12 production	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of myoblast differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in postsynaptic modulation of chemical synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in regulation of G protein-coupled receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of establishment of endothelial barrier	IEA Inferred from Electronic Annotation more info
involved_in regulation of fertilization	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of retrograde trans-synaptic signaling by endocanabinoid	IEA Inferred from Electronic Annotation more info
involved_in release of sequestered calcium ion into cytosol	IBA Inferred from Biological aspect of Ancestor more info
involved_in signal transduction	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in GABA-ergic synapse	IEA Inferred from Electronic Annotation more info
part_of chromatin	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in nuclear membrane	IEA Inferred from Electronic Annotation more info
is_active_in nuclear speck	IBA Inferred from Biological aspect of Ancestor more info
located_in nuclear speck	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed
located_in postsynaptic cytosol	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1

Names: 1-phosphatidyl-D-myo-inositol-4,5-bisphosphate; inositoltrisphosphohydrolase; monophosphatidylinositol phosphodiesterase; phosphoinositidase C; phosphoinositide phospholipase C; phospholipase C, beta 1 (phosphoinositide-specific); phospholipase C-I; triphosphoinositide phosphodiesterase

NP_056007.1

EC 3.1.4.11

NP_877398.1

EC 3.1.4.11

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_028168.2 RefSeqGene

Range

5002..757636

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_015192.4 → NP_056007.1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 isoform a

See identical proteins and their annotated locations for NP_056007.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (a).

Source sequence(s)

AB011153, AL049593, AY004175, BQ184058

Consensus CDS

CCDS13102.1

UniProtKB/Swiss-Prot

D3DW12, D3DW13, O60325, Q17RQ6, Q5TFF7, Q5TGC9, Q8IV93, Q9BQW2, Q9H4H2, Q9H8H5, Q9NQ65, Q9NQ66, Q9NQH9, Q9NTH4, Q9UJP6, Q9UM26

UniProtKB/TrEMBL

A0A1B0GWB6

Related

ENSP00000338185.6, ENST00000338037.11

Conserved Domains (6) summary

cd00275
Location:677 → 796

C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)

cd08591
Location:316 → 643

PI-PLCc_beta; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-beta

cd13361
Location:22 → 148

PH_PLC_beta; Phospholipase C-beta (PLC-beta) pleckstrin homology (PH) domain

cd16208
Location:153 → 303

EFh_PI-PLCbeta1; EF-hand motif found in phosphoinositide phospholipase C beta 1 (PI-PLC-beta1)

pfam06631
Location:903 → 939

DUF1154; Protein of unknown function (DUF1154)

pfam08703
Location:1003 → 1172

PLC-beta_C; PLC-beta C terminal
NM_182734.3 → NP_877398.1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 isoform b

See identical proteins and their annotated locations for NP_877398.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) includes an alternate exon in the 3' end compared to variant 1. This exon contains an in-frame stop codon, and the resulting isoform (b) is shorter and has a distinct C-terminus compared to isoform a.

Source sequence(s)

AB011153, AJ278314, AL049593, BQ184058

Consensus CDS

CCDS13103.1

UniProtKB/TrEMBL

A0A1B0GWB6

Related

ENSP00000367908.3, ENST00000378641.7

Conserved Domains (6) summary

cd00275
Location:677 → 796

C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)

cd08591
Location:316 → 643

PI-PLCc_beta; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-beta

cd13361
Location:22 → 148

PH_PLC_beta; Phospholipase C-beta (PLC-beta) pleckstrin homology (PH) domain

cd16208
Location:153 → 303

EFh_PI-PLCbeta1; EF-hand motif found in phosphoinositide phospholipase C beta 1 (PI-PLC-beta1)

pfam06631
Location:903 → 939

DUF1154; Protein of unknown function (DUF1154)

pfam08703
Location:1003 → 1141

PLC-beta_C; PLC-beta C terminal