PLCB3 - phospholipase C beta 3 Gene

Also Known as SMDCD

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5331

About PLCB3

Cytogenetic location: 11q13.1 Genomic coordinates (GRCh38): 11:64,251,530-64,269,452 (from NCBI)

This gene has 4 transcripts (splice variants), 180 orthologues, 14 paralogues and is associated with 3 phenotypes. Broad expression in duodenum (RPKM 38.8), small intestine (RPKM 36.6) and 18 other tissues.

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]

PLCB3 Products (3)

mRNA	Protein	Name
NM_000932.5	NP_000923.1	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3 isoform 1
NM_001184883.2	NP_001171812.1	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3 isoform 2
NM_001316314.3	NP_001303243.1	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables calmodulin binding	IDA IDA: Inferred from direct assay	12821674	GOA
enables molecular adaptor activity	EXP EXP: Inferred from Experiment	23377541	GOA
enables molecular adaptor activity	IDA IDA: Inferred from direct assay	23377541	GOA
enables molecular function activator activity	EXP EXP: Inferred from Experiment	23377541	GOA
enables phosphatidylinositol phospholipase C activity	IDA IDA: Inferred from direct assay	9188725	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21822282	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in phosphatidylinositol metabolic process	IDA IDA: Inferred from direct assay	9188725	GOA
involved in phospholipase C-activating G protein-coupled receptor signaling pathway	IDA IDA: Inferred from direct assay	20966218	GOA
involved in phospholipase C-activating serotonin receptor signaling pathway	IDA IDA: Inferred from direct assay	20966218	GOA
acts upstream of or within regulation of systemic arterial blood pressure	IDA IDA: Inferred from direct assay	18468998	GOA

Cellular Component GO Annotation	Evidence	References	Source
is active in cytoplasm	IDA IDA: Inferred from direct assay	29122926	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	18468998	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PLCB3 Protein Structure

EF-hand_like

PI-PLC-X

PI-PLC-Y

C2

DUF1154

PLC-beta_C

0
200
400
600
800
1000
1234 a.a.

Protein Preferred Names	Protein Names
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3	PLC beta 3

PLCB3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Cross	PLCB3	Q01970	Gnaq	Mus musculus	P21279	X-Ray Diffraction	23377541
Cross	PLCB3	Q01970	Gnaq	Mus musculus	P21279	Light Scattering	23377541
Cross	PLCB3	Q01970	Gnaq	Mus musculus	P21279	3D-EM	23377541
Cross	PLCB3	Q01970	Gnaq	Mus musculus	P21279	Competition Binding	23377541
Cross	PLCB3	Q01970	Gnaq	Mus musculus	P21279	GMS	23377541

Cross: Cross-species interaction Intra: Intraspecies interaction

PLCB3 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P810555	Phospholipase C beta 3/PLCB3 Antibody (YA9824)	WB, IHC-P	Human
HY-P82949	Phospholipase C beta 3 Antibody (YA2694)	WB, IHC-P	Human

Related Diseases

Diseases	Alias
Spondylometaphyseal Dysplasia With Corneal Dystrophy	SMDCD Spondylometaphyseal Dysplasia-Corneal Dystrophy Syndrome Smd-Corneal Dystrophy Syndrome
Multiple Endocrine Neoplasia	Men Multiple Endocrine Adenomatosis Multiple Endocrine Neoplasia Syndrome Adenomatosis, Familial Endocrine Endocrine Neoplasia, Multiple Familial Endocrine Adenomatosis Mea Multiple Endocrine Neoplasms Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia, Type I	Multiple Endocrine Neoplasia Type 1 MEN1 Wermer Syndrome Multiple Endocrine Neoplasia 1 Multiple Endocrine Neoplasia, Type 1 Men I Endocrine Adenomatosis, Multiple Mea I Men Type I Wermer'S Syndrome Men1 Syndrome Multiple Endocrine Adenomatosis Endocrine Adenomatosis Multiple Men 1 Familial Multiple Endocrine Neoplasia Type I Neoplasia, Endocrine, Multiple, Type 1 Multiple Endocrine Neoplasia
Corneal Dystrophy
Spinocerebellar Ataxia, Autosomal Recessive 13	Autosomal Recessive Spinocerebellar Ataxia 13 SCAR13 Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency Autosomal Recessive Congenital Cerebellar Ataxia Due To Metabotropic Glutamate Receptor 1 Deficiency Autosomal Recessive Spinocerebellar Ataxia Type 13 Spinocerebellar Ataxia, Autosomal Recessive, 13 Ataxia, Spinocerebellar, Autosomal Recessive, Type 13

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10654	PLCB3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	PLCB3	VGNC	VGNC:68894
Bos taurus	PLCB3	VGNC	VGNC:32982
Macaca mulatta	PLCB3	VGNC	VGNC:76165
Canis familiaris	PLCB3	VGNC	VGNC:52035
Mus musculus	PLCB3	MGD	MGI:104778
Rattus norvegicus	PLCB3	RGD	RGD:61993
Others	PLCB3	NCBI