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

Gene ID: 23236, updated on 8-Jul-2021

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
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
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Genomic context

See PLCB1 in Genome Data Viewer
Location:
20p12.3
Exon count:
33
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (8132266..8884900)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (8112913..8865547)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene 20p12 distal LINE-mediated recombination region Neighboring gene HNF1, HNF4 and FOXA motif-containing MPRA enhancers 45, 51 and 106/107 Neighboring gene phosphorylase kinase regulatory subunit beta pseudogene 1 Neighboring gene PLCB1 intronic transcript 1 Neighboring gene 20p12 proximal LINE-mediated recombination region Neighboring gene uncharacterized LOC105372521 Neighboring gene RNA, U105B small nucleolar Neighboring gene uncharacterized LOC105372522 Neighboring gene Sharpr-MPRA regulatory region 7247 Neighboring gene phospholipase C beta 4

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study for irinotecan-related severe toxicities in patients with advanced non-small-cell lung cancer.
GeneReviews: Not available
A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.
GeneReviews: Not available
Common genetic variation and performance on standardized cognitive tests.
GeneReviews: Not available
Early infantile epileptic encephalopathy 12
MedGen: C3150988 OMIM: 613722 GeneReviews: Not available
Compare labs
Genome-wide association analyses in East Asians identify new susceptibility loci for colorectal cancer.
GeneReviews: Not available
TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression.
GeneReviews: Not available
Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence.
GeneReviews: Not available

HIV-1 interactions

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

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ45792

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
PubMed 
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
PubMed 
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 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 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 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 lipid catabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in memory IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in memory 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 negative regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
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
PubMed 
involved_in positive regulation of CD24 production 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 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 positive regulation of transcription, DNA-templated 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 catalytic activity IEA
Inferred from Electronic Annotation
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 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
 
located_in chromatin ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 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
PubMed 
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 postsynapse IEA
Inferred from Electronic Annotation
more info
 
part_of protein-containing complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

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
NP_877398.1

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

  1. NG_028168.1 RefSeqGene

    Range
    4618..757252
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_015192.4NP_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
    Q9NQ66
    Related
    ENSP00000338185.6, ENST00000338037.11
    Conserved Domains (6) summary
    cd00275
    Location:677796
    C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
    cd08591
    Location:316643
    PI-PLCc_beta; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-beta
    cd13361
    Location:22148
    PH_PLC_beta; Phospholipase C-beta (PLC-beta) pleckstrin homology (PH) domain
    cd16208
    Location:153303
    EFh_PI-PLCbeta1; EF-hand motif found in phosphoinositide phospholipase C beta 1 (PI-PLC-beta1)
    pfam06631
    Location:903939
    DUF1154; Protein of unknown function (DUF1154)
    pfam08703
    Location:10031172
    PLC-beta_C; PLC-beta C terminal
  2. NM_182734.3NP_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/Swiss-Prot
    Q9NQ66
    Related
    ENSP00000367908.3, ENST00000378641.7
    Conserved Domains (6) summary
    cd00275
    Location:677796
    C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
    cd08591
    Location:316643
    PI-PLCc_beta; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-beta
    cd13361
    Location:22148
    PH_PLC_beta; Phospholipase C-beta (PLC-beta) pleckstrin homology (PH) domain
    cd16208
    Location:153303
    EFh_PI-PLCbeta1; EF-hand motif found in phosphoinositide phospholipase C beta 1 (PI-PLC-beta1)
    pfam06631
    Location:903939
    DUF1154; Protein of unknown function (DUF1154)
    pfam08703
    Location:10031141
    PLC-beta_C; PLC-beta C terminal

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    8132266..8884900
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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