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

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: mouse all
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Genomic context

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_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A gain-of-function variation in PLCG1 causes a new immune dysregulation disease.
Title: A gain-of-function variation in PLCG1 causes a new immune dysregulation disease.
Endothelial VEGFR2-PLCgamma signaling regulates vascular permeability and antitumor immunity through eNOS/Src.
Title: Endothelial VEGFR2-PLCγ signaling regulates vascular permeability and antitumor immunity through eNOS/Src.
Expression of BCL11A in chronic lymphocytic leukaemia.
Title: Expression of BCL11A in chronic lymphocytic leukaemia.
A frequent PLCgamma1 mutation in adult T-cell leukemia/lymphoma determines functional properties of the malignant cells.
Title: A frequent PLCγ1 mutation in adult T-cell leukemia/lymphoma determines functional properties of the malignant cells.
Loss of phospholipase Cgamma1 suppresses hepatocellular carcinogenesis through blockade of STAT3-mediated cancer development.
Title: Loss of phospholipase Cγ1 suppresses hepatocellular carcinogenesis through blockade of STAT3-mediated cancer development.
Methylation-mediated silencing of PTPRD induces pulmonary hypertension by promoting pulmonary arterial smooth muscle cell migration via the PDGFRB/PLCgamma1 axis.
Title: Methylation-mediated silencing of PTPRD induces pulmonary hypertension by promoting pulmonary arterial smooth muscle cell migration via the PDGFRB/PLCγ1 axis.
PLCG1 is required for AML1-ETO leukemia stem cell self-renewal.
Title: PLCG1 is required for AML1-ETO leukemia stem cell self-renewal.
Phospholipase Cgamma1 (PLCG1) overexpression is associated with tumor growth and poor survival in IDH wild-type lower-grade gliomas in adult patients.
Title: Phospholipase Cγ1 (PLCG1) overexpression is associated with tumor growth and poor survival in IDH wild-type lower-grade gliomas in adult patients.
A computational in silico approach to predict high-risk coding and non-coding SNPs of human PLCG1 gene.
Title: A computational in silico approach to predict high-risk coding and non-coding SNPs of human PLCG1 gene.
PLCgamma1dependent invasion and migration of cells expressing NSCLCassociated EGFR mutants.
Title: PLCγ1‑dependent invasion and migration of cells expressing NSCLC‑associated EGFR mutants.

Submit: New GeneRIF Correction See all GeneRIFs (153)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PLCG1_1396 (e-PCR)
- UniSTS:277592

PLCG1_v459 (e-PCR)
- UniSTS:277592

STS-M34667 (e-PCR)
- UniSTS:34652

GDB:188616 (e-PCR)
- UniSTS:2920

STS-R76690 (e-PCR)
- UniSTS:26008

G15919 (e-PCR)
- UniSTS:73136

D20S529E (e-PCR)
- UniSTS:31967

MARC_13623-13624:1002811759:1 (e-PCR)
- UniSTS:267514

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables calcium-dependent phospholipase C activity	ISS Inferred from Sequence or Structural Similarity more info
enables glutamate receptor binding	IEA Inferred from Electronic Annotation more info
enables guanyl-nucleotide exchange factor activity	ISS Inferred from Sequence or Structural Similarity more info
enables neurotrophin TRKA receptor binding	IPI Inferred from Physical Interaction 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 phosphatidylinositol phospholipase C activity	TAS Traceable Author Statement more info
enables phospholipase C activity	IDA Inferred from Direct Assay more info	PubMed
enables phospholipase C activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables phospholipase C activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables receptor tyrosine kinase binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in Fc-epsilon receptor signaling pathway	TAS Traceable Author Statement more info
involved_in T cell receptor signaling pathway	TAS Traceable Author Statement more info
involved_in calcium-mediated signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to epidermal growth factor stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to epidermal growth factor stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in epidermal growth factor receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in epidermal growth factor receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in in utero embryonic development	IEA Inferred from Electronic Annotation more info
involved_in modulation of chemical synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of inflammatory response to antigenic stimulus	TAS Traceable Author Statement more info
involved_in phosphatidylinositol metabolic process	IBA Inferred from Biological aspect of Ancestor more info
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
involved_in phospholipid catabolic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of angiogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of blood vessel endothelial cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of endothelial cell apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of epithelial cell migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of epithelial cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of release of sequestered calcium ion into cytosol	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of vascular endothelial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in release of sequestered calcium ion into cytosol	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of COP9 signalosome	IDA Inferred from Direct Assay more info	PubMed
located_in Schaffer collateral - CA1 synapse	IEA Inferred from Electronic Annotation more info
located_in cell projection	IDA Inferred from Direct Assay more info	PubMed
located_in cell-cell junction	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in lamellipodium	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in ruffle	IDA Inferred from Direct Assay more info	PubMed
is_active_in ruffle membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in ruffle membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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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

EC 3.1.4.11

NP_877963.1

EC 3.1.4.11

XP_005260495.1

EC 3.1.4.11

XP_011527169.1

EC 3.1.4.11

XP_047296163.1

EC 3.1.4.11

XP_047296164.1

EC 3.1.4.11

XP_054179500.1

EC 3.1.4.11

XP_054179501.1

EC 3.1.4.11

XP_054179502.1

EC 3.1.4.11

XP_054179503.1

EC 3.1.4.11

XP_054179504.1

EC 3.1.4.11

XP_054179505.1

EC 3.1.4.11

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.

mRNA and Protein(s)

NM_002660.3 → NP_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:954 → 1069

PLCYc; Phospholipase C, catalytic domain (part); domain Y

cd00275
Location:1087 → 1211

C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)

cd08592
Location:319 → 466

PI-PLCc_gamma; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-gamma

cd09932
Location:663 → 765

SH2_C-SH2_PLC_gamma_like; C-terminal Src homology 2 (C-SH2) domain in Phospholipase C gamma

cd10341
Location:545 → 649

SH2_N-SH2_PLC_gamma_like; N-terminal Src homology 2 (N-SH2) domain in Phospholipase C gamma

cd11970
Location:791 → 850

SH3_PLCgamma1; Src homology 3 domain of Phospholipase C (PLC) gamma 1

cd13234
Location:864 → 933

PHsplit_PLC_gamma; Phospholipase C-gamma Split pleckstrin homology (PH) domain

cd13362
Location:29 → 151

PH_PLC_gamma; Phospholipase C-gamma (PLC-gamma) pleckstrin homology (PH) domain

pfam00169
Location:71 → 142

PH; PH domain

cl17171
Location:489 → 523

PH-like; Pleckstrin homology-like domain
NM_182811.2 → NP_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:954 → 1069

PLCYc; Phospholipase C, catalytic domain (part); domain Y

cd00275
Location:1087 → 1211

C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)

cd08592
Location:319 → 466

PI-PLCc_gamma; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-gamma

cd09932
Location:663 → 765

SH2_C-SH2_PLC_gamma_like; C-terminal Src homology 2 (C-SH2) domain in Phospholipase C gamma

cd10341
Location:545 → 649

SH2_N-SH2_PLC_gamma_like; N-terminal Src homology 2 (N-SH2) domain in Phospholipase C gamma

cd11970
Location:791 → 850

SH3_PLCgamma1; Src homology 3 domain of Phospholipase C (PLC) gamma 1

cd13234
Location:864 → 933

PHsplit_PLC_gamma; Phospholipase C-gamma Split pleckstrin homology (PH) domain

cd13362
Location:29 → 151

PH_PLC_gamma; Phospholipase C-gamma (PLC-gamma) pleckstrin homology (PH) domain

pfam00169
Location:71 → 142

PH; PH domain

cl17171
Location:489 → 523

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

NC_000020.11 Reference GRCh38.p14 Primary Assembly

Range

41137543..41177626

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

Q4LE43

Conserved Domains (10) summary

smart00149
Location:954 → 1069

PLCYc; Phospholipase C, catalytic domain (part); domain Y

cd00275
Location:1087 → 1250

C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)

cd08592
Location:319 → 466

PI-PLCc_gamma; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-gamma

cd09932
Location:663 → 765

SH2_C-SH2_PLC_gamma_like; C-terminal Src homology 2 (C-SH2) domain in Phospholipase C gamma

cd10341
Location:545 → 649

SH2_N-SH2_PLC_gamma_like; N-terminal Src homology 2 (N-SH2) domain in Phospholipase C gamma

cd11970
Location:791 → 850

SH3_PLCgamma1; Src homology 3 domain of Phospholipase C (PLC) gamma 1

cd13234
Location:864 → 933

PHsplit_PLC_gamma; Phospholipase C-gamma Split pleckstrin homology (PH) domain

cd13362
Location:29 → 151

PH_PLC_gamma; Phospholipase C-gamma (PLC-gamma) pleckstrin homology (PH) domain

pfam00169
Location:71 → 142

PH; PH domain

cl17171
Location:489 → 523

PH-like; Pleckstrin homology-like domain
XM_047440207.1 → XP_047296163.1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1 isoform X2
XM_011528867.3 → XP_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:319 → 466

PI-PLCc_gamma; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-gamma

cd09932
Location:663 → 765

SH2_C-SH2_PLC_gamma_like; C-terminal Src homology 2 (C-SH2) domain in Phospholipase C gamma

cd10341
Location:545 → 649

SH2_N-SH2_PLC_gamma_like; N-terminal Src homology 2 (N-SH2) domain in Phospholipase C gamma

cd11970
Location:791 → 850

SH3_PLCgamma1; Src homology 3 domain of Phospholipase C (PLC) gamma 1

cd13362
Location:29 → 151

PH_PLC_gamma; Phospholipase C-gamma (PLC-gamma) pleckstrin homology (PH) domain

pfam00169
Location:71 → 142

PH; PH domain

cl17171
Location:489 → 523

PH-like; Pleckstrin homology-like domain
XM_047440208.1 → XP_047296164.1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1 isoform X3

Alternate T2T-CHM13v2.0

Genomic

NC_060944.1 Alternate T2T-CHM13v2.0

Range

42868611..42909312

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054323526.1 → XP_054179501.1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1 isoform X4
XM_054323527.1 → XP_054179502.1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1 isoform X5
XM_054323525.1 → XP_054179500.1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1 isoform X1
XM_054323528.1 → XP_054179503.1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1 isoform X2
XM_054323529.1 → XP_054179504.1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1 isoform X3
XM_054323530.1 → XP_054179505.1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1 isoform X3