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

Gene ID: 5331, updated on 6-Oct-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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Genomic context

See PLCB3 in Genome Data Viewer
Location:
11q13.1
Exon count:
33
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (64251530..64269452)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (64241551..64259480)
RS_2024_09 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 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 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
 
is_active_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
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_2024_08

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