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    PLCB3 phospholipase C beta 3 [ Homo sapiens (human) ]

    Gene ID: 5331, updated on 17-Jun-2024

    Summary

    Official Symbol
    PLCB3provided by HGNC
    Official Full Name
    phospholipase C beta 3provided by HGNC
    Primary source
    HGNC:HGNC:9056
    See related
    Ensembl:ENSG00000149782 MIM:600230; AllianceGenome:HGNC:9056
    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
    SMDCD
    Summary
    This gene encodes a member of the phosphoinositide phospholipase C beta enzyme family that catalyze the production of the secondary messengers diacylglycerol and inositol 1,4,5-triphosphate from phosphatidylinositol in G-protein-linked receptor-mediated signal transduction. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
    Expression
    Broad expression in duodenum (RPKM 38.8), small intestine (RPKM 36.6) and 18 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See PLCB3 in Genome Data Viewer
    Location:
    11q13.1
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (64251530..64269452)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (64241551..64259480)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (64019002..64036924)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:64008477-64009377 Neighboring gene Uncharacterized protein LOC114841035 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3469 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64010280-64011180 Neighboring gene PPP1R14B antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3470 Neighboring gene FKBP prolyl isomerase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3471 Neighboring gene protein phosphatase 1 regulatory inhibitor subunit 14B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64015853-64016500 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64016501-64017146 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64017147-64017794 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64019089-64019734 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64019735-64020381 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4892 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4893 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3473 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4894 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:64038093-64038658 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4895 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4896 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64042574-64043234 Neighboring gene G protein-coupled receptor 137 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64043895-64044554 Neighboring gene BCL2 associated agonist of cell death Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64046081-64046582 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3474 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3475 Neighboring gene KCNK4-CATSPERZ readthrough (NMD candidate) Neighboring gene potassium two pore domain channel subfamily K member 4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64066730-64067724

    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?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 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

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ37084

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cadherin binding HDA 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 molecular adaptor activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables molecular adaptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables molecular function activator activity EXP
    Inferred from Experiment
    more info
    PubMed 
    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 phospholipase C activity TAS
    Traceable Author Statement
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in postsynaptic cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3
    Names
    PLC beta 3
    phosphoinositide phospholipase C-beta-3
    phospholipase C, beta 3 (phosphatidylinositol-specific)
    NP_000923.1
    NP_001171812.1
    NP_001303243.1
    XP_016873414.1
    XP_054225108.1

    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.

    mRNA and Protein(s)

    1. NM_000932.5NP_000923.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3 isoform 1

      See identical proteins and their annotated locations for NP_000923.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1). Variants 1 and 3 both encode the same isoform (1).
      Source sequence(s)
      AP001453, BC142681
      Consensus CDS
      CCDS8064.1
      UniProtKB/Swiss-Prot
      A5PKZ6, G5E960, Q01970, Q8N1A4
      Related
      ENSP00000279230.6, ENST00000279230.12
      Conserved Domains (7) summary
      cd00275
      Location:728843
      C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
      cd08625
      Location:316693
      PI-PLCc_beta3; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-beta3
      cd13361
      Location:22149
      PH_PLC_beta; Phospholipase C-beta (PLC-beta) pleckstrin homology (PH) domain
      pfam06631
      Location:951988
      DUF1154; Protein of unknown function (DUF1154)
      pfam08703
      Location:10291202
      PLC-beta_C; PLC-beta C terminal
      pfam09279
      Location:225315
      EF-hand_like; Phosphoinositide-specific phospholipase C, efhand-like
      cl12013
      Location:10231146
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    2. NM_001184883.2NP_001171812.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3 isoform 2

      See identical proteins and their annotated locations for NP_001171812.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame portion of the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AP001453, BC032659
      Consensus CDS
      CCDS53654.1
      UniProtKB/Swiss-Prot
      Q01970
      Related
      ENSP00000324660.5, ENST00000325234.5
      Conserved Domains (7) summary
      cd00275
      Location:661776
      C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
      cd08625
      Location:249626
      PI-PLCc_beta3; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-beta3
      pfam06631
      Location:884921
      DUF1154; Protein of unknown function (DUF1154)
      pfam08703
      Location:9621135
      PLC-beta_C; PLC-beta C terminal
      pfam09279
      Location:158248
      EF-hand_like; Phosphoinositide-specific phospholipase C, efhand-like
      cl12013
      Location:9561079
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
      cl17171
      Location:3382
      PH-like; Pleckstrin homology-like domain
    3. NM_001316314.3NP_001303243.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 3' UTR compared to variant 1. Variants 1 and 3 both encode the same isoform (1).
      Source sequence(s)
      AP001453, BC146645, CN278806, Z26649
      Consensus CDS
      CCDS8064.1
      UniProtKB/Swiss-Prot
      A5PKZ6, G5E960, Q01970, Q8N1A4
      Related
      ENSP00000443631.1, ENST00000540288.5
      Conserved Domains (7) summary
      cd00275
      Location:728843
      C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
      cd08625
      Location:316693
      PI-PLCc_beta3; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-beta3
      cd13361
      Location:22149
      PH_PLC_beta; Phospholipase C-beta (PLC-beta) pleckstrin homology (PH) domain
      pfam06631
      Location:951988
      DUF1154; Protein of unknown function (DUF1154)
      pfam08703
      Location:10291202
      PLC-beta_C; PLC-beta C terminal
      pfam09279
      Location:225315
      EF-hand_like; Phosphoinositide-specific phospholipase C, efhand-like
      cl12013
      Location:10231146
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      64251530..64269452
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017017925.3XP_016873414.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      64241551..64259480
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369133.1XP_054225108.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3 isoform X1