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PLCG1 phospholipase C gamma 1 [ Homo sapiens (human) ]

Gene ID: 5335, updated on 4-Jan-2025

Summary

Official Symbol
PLCG1provided by HGNC
Official Full Name
phospholipase C gamma 1provided by HGNC
Primary source
HGNC:HGNC:9065
See related
Ensembl:ENSG00000124181 MIM:172420; AllianceGenome:HGNC:9065
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
IDAA; PLC1; NCKAP3; PLC-II; PLC148; PLCgamma1
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 receptor-mediated tyrosine kinase activators. For example, when activated by SRC, the encoded protein causes the Ras guanine nucleotide exchange factor RasGRP1 to translocate to the Golgi, where it activates Ras. Also, this protein has been shown to be a major substrate for heparin-binding growth factor 1 (acidic fibroblast growth factor)-activated tyrosine kinase. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in endometrium (RPKM 23.5), lymph node (RPKM 23.2) and 25 other tissues See more
Orthologs
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Genomic context

See PLCG1 in Genome Data Viewer
Location:
20q12
Exon count:
32
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (41137543..41177626)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (42868611..42909312)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (39766183..39806266)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene origin of replication in promoter of TOP1 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:39657161-39657512 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12912 Neighboring gene Sharpr-MPRA regulatory region 14849 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:39686360-39687559 Neighboring gene DNA topoisomerase I Neighboring gene t(11;20)(p15;q11) topoisomerase (DNA) I recombination region Neighboring gene PLCG1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12913 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12914 Neighboring gene translation initiation factor IF-2-like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17886 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17887 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:39764698-39765482 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:39766267-39767051 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17889 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:39774494-39774994 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:39774995-39775495 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17890 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:39786713-39787233 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17891 Neighboring gene microRNA 6871 Neighboring gene ribosomal protein L23a pseudogene 81 Neighboring gene zinc fingers and homeoboxes 3 Neighboring gene RNA, 7SL, cytoplasmic 615, pseudogene

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

Associated conditions

Description Tests
Immune dysregulation, autoimmunity, and autoinflammation
MedGen: C5848750 OMIM: 620514 GeneReviews: Not available
not available

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
env Lck is recuited to a virological synapse (VS) interface and is highly colocalized with gp120 when cells interact with gp120+ICAM-1 bilayers, leading to activate ZAP70, LAT, SLP76, and PLCgamma PubMed
Envelope surface glycoprotein gp160, precursor env Pretreatment of cells with HIV-1 gp160 results in marked inhibition of tyrosine phosphorylation of p59(fyn), PLC-gamma1, ras activation, and TNF-alpha secretion in anti-CD3 mAb activated CD4+ T cells PubMed
env HIV-1 gp160 disrupts the association between phospholipase C gamma-1 and phosphoinositide 3 kinase (PI3-kinase), and this effect is dependent on PI3-kinase activity PubMed
Nef nef The early phosphorylation of PLC-gamma1 is impaired by HIV-1 Nef in sub-optimally activated/resting T cells PubMed
Pr55(Gag) gag SPRY2 interactions with PI(4,5)P2 and PLCgamma allow it to influence HIV-1 Gag release through interference with PI(4,5)P2 dynamics PubMed
gag Phospholipase C-gamma is required for HIV-1 Gag release in the presence or absence of TSG101 binding 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

General gene information

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding  
enables calcium-dependent phospholipase C activity  
enables glutamate receptor binding  
enables guanyl-nucleotide exchange factor activity  
enables neurotrophin TRKA receptor binding PubMed 
enables phosphatidylinositol phospholipase C activity  
enables phosphatidylinositol phospholipase C activity PubMed 
enables phosphatidylinositol phospholipase C activity  
enables phospholipase C activity PubMed 
enables phospholipase C activity PubMed 
enables phospholipase C activity  
enables protein binding PubMed 
enables protein kinase binding PubMed 
enables receptor tyrosine kinase binding  
Process Evidence Code Pubs
involved_in Fc-epsilon receptor signaling pathway  
involved_in T cell receptor signaling pathway  
involved_in calcium-mediated signaling PubMed 
involved_in cell migration PubMed 
involved_in cellular response to epidermal growth factor stimulus PubMed 
involved_in cellular response to epidermal growth factor stimulus PubMed 
involved_in epidermal growth factor receptor signaling pathway PubMed 
involved_in epidermal growth factor receptor signaling pathway  
involved_in in utero embryonic development  
involved_in modulation of chemical synaptic transmission  
involved_in negative regulation of inflammatory response to antigenic stimulus  
involved_in phosphatidylinositol metabolic process  
involved_in phosphatidylinositol metabolic process  
involved_in phosphatidylinositol-mediated signaling  
involved_in phospholipid catabolic process  
involved_in positive regulation of angiogenesis PubMed 
involved_in positive regulation of blood vessel endothelial cell migration PubMed 
involved_in positive regulation of endothelial cell apoptotic process PubMed 
involved_in positive regulation of epithelial cell migration  
involved_in positive regulation of epithelial cell migration PubMed 
involved_in positive regulation of release of sequestered calcium ion into cytosol PubMed 
involved_in positive regulation of vascular endothelial cell proliferation PubMed 
involved_in release of sequestered calcium ion into cytosol  
Component Evidence Code Pubs
part_of COP9 signalosome PubMed 
located_in Schaffer collateral - CA1 synapse  
located_in cell projection PubMed 
located_in cell-cell junction  
located_in cytoplasm PubMed 
located_in cytosol PubMed 
located_in cytosol  
located_in glutamatergic synapse  
located_in lamellipodium PubMed 
is_active_in plasma membrane PubMed 
located_in plasma membrane PubMed 
located_in plasma membrane  
located_in ruffle PubMed 
is_active_in ruffle membrane  
is_active_in ruffle membrane PubMed 

General protein information

Preferred Names
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1
Names
1-phosphatidyl-D-myo-inositol-4,5-bisphosphate
PLC-148
PLC-gamma-1
inositoltrisphosphohydrolase
monophosphatidylinositol phosphodiesterase
phosphatidylinositol phospholipase C
phosphoinositidase C
phosphoinositide phospholipase C
phosphoinositide phospholipase C-gamma-1
phospholipase C, gamma 1 (formerly subtype 148)
phospholipase C-148
phospholipase C-II
triphosphoinositide phosphodiesterase
NP_002651.2
NP_877963.1
XP_005260495.1
XP_011527169.1
XP_047296163.1
XP_047296164.1
XP_054179500.1
XP_054179501.1
XP_054179502.1
XP_054179503.1
XP_054179504.1
XP_054179505.1

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_002660.3NP_002651.2  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1 isoform a

    See identical proteins and their annotated locations for NP_002651.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AB210028, AL022394, AL110247, M34667
    Consensus CDS
    CCDS13313.1
    UniProtKB/TrEMBL
    Q4LE43
    Related
    ENSP00000508698.1, ENST00000685551.1
    Conserved Domains (10) summary
    smart00149
    Location:9541069
    PLCYc; Phospholipase C, catalytic domain (part); domain Y
    cd00275
    Location:10871211
    C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
    cd08592
    Location:319466
    PI-PLCc_gamma; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-gamma
    cd09932
    Location:663765
    SH2_C-SH2_PLC_gamma_like; C-terminal Src homology 2 (C-SH2) domain in Phospholipase C gamma
    cd10341
    Location:545649
    SH2_N-SH2_PLC_gamma_like; N-terminal Src homology 2 (N-SH2) domain in Phospholipase C gamma
    cd11970
    Location:791850
    SH3_PLCgamma1; Src homology 3 domain of Phospholipase C (PLC) gamma 1
    cd13234
    Location:864933
    PHsplit_PLC_gamma; Phospholipase C-gamma Split pleckstrin homology (PH) domain
    cd13362
    Location:29151
    PH_PLC_gamma; Phospholipase C-gamma (PLC-gamma) pleckstrin homology (PH) domain
    pfam00169
    Location:71142
    PH; PH domain
    cl17171
    Location:489523
    PH-like; Pleckstrin homology-like domain
  2. NM_182811.2NP_877963.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1 isoform b

    See identical proteins and their annotated locations for NP_877963.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
    Source sequence(s)
    AB210028, AL022394, M34667
    Consensus CDS
    CCDS13314.1
    UniProtKB/Swiss-Prot
    B7ZLY7, B9EGH4, E1P5W4, P19174, Q2V575
    UniProtKB/TrEMBL
    Q4LE43
    Related
    ENSP00000362368.1, ENST00000373271.5
    Conserved Domains (10) summary
    smart00149
    Location:9541069
    PLCYc; Phospholipase C, catalytic domain (part); domain Y
    cd00275
    Location:10871211
    C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
    cd08592
    Location:319466
    PI-PLCc_gamma; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-gamma
    cd09932
    Location:663765
    SH2_C-SH2_PLC_gamma_like; C-terminal Src homology 2 (C-SH2) domain in Phospholipase C gamma
    cd10341
    Location:545649
    SH2_N-SH2_PLC_gamma_like; N-terminal Src homology 2 (N-SH2) domain in Phospholipase C gamma
    cd11970
    Location:791850
    SH3_PLCgamma1; Src homology 3 domain of Phospholipase C (PLC) gamma 1
    cd13234
    Location:864933
    PHsplit_PLC_gamma; Phospholipase C-gamma Split pleckstrin homology (PH) domain
    cd13362
    Location:29151
    PH_PLC_gamma; Phospholipase C-gamma (PLC-gamma) pleckstrin homology (PH) domain
    pfam00169
    Location:71142
    PH; PH domain
    cl17171
    Location:489523
    PH-like; Pleckstrin homology-like domain

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
    41137543..41177626
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005260438.3XP_005260495.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1 isoform X1

    UniProtKB/TrEMBL
    Q4LE43
    Conserved Domains (10) summary
    smart00149
    Location:9541069
    PLCYc; Phospholipase C, catalytic domain (part); domain Y
    cd00275
    Location:10871250
    C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
    cd08592
    Location:319466
    PI-PLCc_gamma; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-gamma
    cd09932
    Location:663765
    SH2_C-SH2_PLC_gamma_like; C-terminal Src homology 2 (C-SH2) domain in Phospholipase C gamma
    cd10341
    Location:545649
    SH2_N-SH2_PLC_gamma_like; N-terminal Src homology 2 (N-SH2) domain in Phospholipase C gamma
    cd11970
    Location:791850
    SH3_PLCgamma1; Src homology 3 domain of Phospholipase C (PLC) gamma 1
    cd13234
    Location:864933
    PHsplit_PLC_gamma; Phospholipase C-gamma Split pleckstrin homology (PH) domain
    cd13362
    Location:29151
    PH_PLC_gamma; Phospholipase C-gamma (PLC-gamma) pleckstrin homology (PH) domain
    pfam00169
    Location:71142
    PH; PH domain
    cl17171
    Location:489523
    PH-like; Pleckstrin homology-like domain
  2. XM_047440207.1XP_047296163.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1 isoform X2

  3. XM_011528867.3XP_011527169.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1 isoform X3

    See identical proteins and their annotated locations for XP_011527169.1

    Conserved Domains (7) summary
    cd08592
    Location:319466
    PI-PLCc_gamma; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-gamma
    cd09932
    Location:663765
    SH2_C-SH2_PLC_gamma_like; C-terminal Src homology 2 (C-SH2) domain in Phospholipase C gamma
    cd10341
    Location:545649
    SH2_N-SH2_PLC_gamma_like; N-terminal Src homology 2 (N-SH2) domain in Phospholipase C gamma
    cd11970
    Location:791850
    SH3_PLCgamma1; Src homology 3 domain of Phospholipase C (PLC) gamma 1
    cd13362
    Location:29151
    PH_PLC_gamma; Phospholipase C-gamma (PLC-gamma) pleckstrin homology (PH) domain
    pfam00169
    Location:71142
    PH; PH domain
    cl17171
    Location:489523
    PH-like; Pleckstrin homology-like domain
  4. XM_047440208.1XP_047296164.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1 isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    42868611..42909312
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054323526.1XP_054179501.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1 isoform X4

    UniProtKB/TrEMBL
    Q4LE43
  2. XM_054323527.1XP_054179502.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1 isoform X5

    UniProtKB/TrEMBL
    Q4LE43
  3. XM_054323525.1XP_054179500.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1 isoform X1

    UniProtKB/TrEMBL
    Q4LE43
  4. XM_054323528.1XP_054179503.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1 isoform X2

  5. XM_054323529.1XP_054179504.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1 isoform X3

  6. XM_054323530.1XP_054179505.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1 isoform X3

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