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

    Gene ID: 23236, updated on 10-Dec-2024

    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
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    Genomic context

    See PLCB1 in Genome Data Viewer
    Location:
    20p12.3
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (8132266..8884900)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (8174228..8928072)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (8112913..8865547)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 13354 Neighboring gene Sharpr-MPRA regulatory region 6433 Neighboring gene TMX4 antisense RNA 1 Neighboring gene 20p12 distal LINE-mediated recombination region Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12668 Neighboring gene HNF1, HNF4 and FOXA motif-containing MPRA enhancers 45, 51 and 106/107 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17536 Neighboring gene phosphorylase kinase regulatory subunit beta pseudogene 1 Neighboring gene PLCB1 intronic transcript 1 Neighboring gene NANOG hESC enhancer GRCh37_chr20:8290037-8290646 Neighboring gene uncharacterized LOC124900459 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr20:8444621-8445820 Neighboring gene uncharacterized LOC124904867 Neighboring gene uncharacterized LOC124904868 Neighboring gene 20p12 proximal LINE-mediated recombination region Neighboring gene uncharacterized LOC105372521 Neighboring gene Sharpr-MPRA regulatory region 15406 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12669 Neighboring gene Sharpr-MPRA regulatory region 2883 Neighboring gene RNA, U105B small nucleolar Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:8917332-8917836 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:8917837-8918339 Neighboring gene uncharacterized LOC105372522 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:9031646-9032845 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:9055836-9056336 Neighboring gene Sharpr-MPRA regulatory region 7247 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:9160877-9161492 Neighboring gene phospholipase C beta 4 Neighboring gene MPRA-validated peak4143 silencer

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (16 hits/1274 screens)

    Associated conditions

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

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

    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

    General gene information

    Clone Names

    • FLJ45792

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity PubMed 
    enables calcium ion binding  
    enables calmodulin binding  
    enables calmodulin binding PubMed 
    enables enzyme binding PubMed 
    enables identical protein binding  
    enables lamin binding  
    enables phosphatidylinositol phospholipase C activity  
    enables phosphatidylinositol phospholipase C activity PubMed 
    enables phosphatidylinositol phospholipase C activity  
    enables phosphatidylinositol phospholipase C activity PubMed 
    enables phosphatidylinositol-4,5-bisphosphate binding PubMed 
    enables phospholipase C activity  
    enables protein binding PubMed 
    Items 1 - 25 of 47
    Process Evidence Code Pubs
    involved_in G protein-coupled acetylcholine receptor signaling pathway  
    involved_in G protein-coupled receptor signaling pathway  
    involved_in G protein-coupled receptor signaling pathway  
    involved_in G2/M transition of mitotic cell cycle  
    involved_in activation of meiosis involved in egg activation  
    involved_in cellular response to fluoride  
    involved_in cellular response to glyceraldehyde  
    involved_in cellular response to ionomycin  
    involved_in cellular response to vasopressin  
    involved_in cerebral cortex development  
    involved_in fat cell differentiation  
    involved_in glutamate receptor signaling pathway  
    involved_in inositol trisphosphate metabolic process  
    involved_in insulin-like growth factor receptor signaling pathway  
    involved_in interleukin-1-mediated signaling pathway PubMed 
    involved_in interleukin-12-mediated signaling pathway PubMed 
    involved_in interleukin-15-mediated signaling pathway PubMed 
    involved_in ion channel modulating, G protein-coupled receptor signaling pathway  
    involved_in learning  
    involved_in ligand-gated ion channel signaling pathway  
    involved_in memory  
    involved_in memory  
    involved_in negative regulation of DNA-templated transcription  
    involved_in negative regulation of monocyte extravasation  
    involved_in phosphatidylinositol catabolic process  
    involved_in phosphatidylinositol metabolic process  
    involved_in phosphatidylinositol metabolic process PubMed 
    involved_in phosphatidylinositol metabolic process  
    involved_in phosphatidylinositol-mediated signaling  
    involved_in phospholipase C-activating G protein-coupled acetylcholine receptor signaling pathway  
    involved_in positive regulation of CD24 production  
    involved_in positive regulation of DNA-templated transcription  
    involved_in positive regulation of G1/S transition of mitotic cell cycle  
    involved_in positive regulation of JNK cascade PubMed 
    involved_in positive regulation of acrosome reaction  
    involved_in positive regulation of developmental growth  
    involved_in positive regulation of embryonic development  
    involved_in positive regulation of insulin secretion  
    involved_in positive regulation of interleukin-12 production  
    involved_in positive regulation of myoblast differentiation  
    involved_in postsynaptic modulation of chemical synaptic transmission  
    involved_in regulation of G protein-coupled receptor signaling pathway  
    involved_in regulation of establishment of endothelial barrier  
    involved_in regulation of fertilization  
    involved_in regulation of retrograde trans-synaptic signaling by endocanabinoid  
    involved_in release of sequestered calcium ion into cytosol  
    involved_in signal transduction PubMed 
    Items 1 - 25 of 47
    Component Evidence Code Pubs
    located_in GABA-ergic synapse  
    located_in chromatin  
    is_active_in cytoplasm  
    located_in cytoplasm PubMed 
    located_in cytosol  
    located_in extracellular exosome PubMed 
    located_in glutamatergic synapse  
    located_in nuclear membrane  
    is_active_in nuclear speck  
    located_in nuclear speck PubMed 
    located_in nucleus PubMed 
    located_in postsynaptic cytosol  
    part_of protein-containing complex  

    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)

    NEW Try the new Transcript table

    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_028168.2 RefSeqGene

      Range
      5002..757636
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. 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
    2. 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

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      8174228..8928072
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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