• Gene id: 5331

Gene Summary

• Gene Symbol: PLCB3   Gene   UCSC   Ensembl
• Gene name: phospholipase C beta 3
• Alternate names: 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3, PLC beta 3, phosphoinositide phospholipase C-beta-3, phospholipase C, beta 3 (phosphatidylinositol-specific),
• Gene location: 11q13.1 (64251529: 64269451)     Exons: 32     NC_000011.10
• Gene summary(Entrez): 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 s
• OMIM: 600230

Protein Summary

• Protein general information: Q01970  
  • Name: 1 phosphatidylinositol 4,5 bisphosphate phosphodiesterase beta 3 (EC 3.1.4.11) (Phosphoinositide phospholipase C beta 3) (Phospholipase C beta 3) (PLC beta 3)
  • Length: 1234  
  • Mass: 138799
• Sequence:

  MAGAQPGVHALQLEPPTVVETLRRGSKFIKWDEETSSRNLVTLRVDPNGFFLYWTGPNMEVDTLDISSIRDTRTG
  RYARLPKDPKIREVLGFGGPDARLEEKLMTVVSGPDPVNTVFLNFMAVQDDTAKVWSEELFKLAMNILAQNASRN
  TFLRKAYTKLKLQVNQDGRIPVKNILKMFSADKKRVETALESCGLKFNRSESIRPDEFSLEIFERFLNKLCLRPD
  IDKILLEIGAKGKPYLTLEQLMDFINQKQRDPRLNEVLYPPLRPSQARLLIEKYEPNQQFLERDQMSMEGFSRYL
  GGEENGILPLEALDLSTDMTQPLSAYFINSSHNTYLTAGQLAGTSSVEMYRQALLWGCRCVELDVWKGRPPEEEP
  FITHGFTMTTEVPLRDVLEAIAETAFKTSPYPVILSFENHVDSAKQQAKMAEYCRSIFGDALLIEPLDKYPLAPG
  VPLPSPQDLMGRILVKNKKRHRPSAGGPDSAGRKRPLEQSNSALSESSAATEPSSPQLGSPSSDSCPGLSNGEEV
  GLEKPSLEPQKSLGDEGLNRGPYVLGPADREDEEEDEEEEEQTDPKKPTTDEGTASSEVNATEEMSTLVNYIEPV
  KFKSFEAARKRNKCFEMSSFVETKAMEQLTKSPMEFVEYNKQQLSRIYPKGTRVDSSNYMPQLFWNVGCQLVALN
  FQTLDVAMQLNAGVFEYNGRSGYLLKPEFMRRPDKSFDPFTEVIVDGIVANALRVKVISGQFLSDRKVGIYVEVD
  MFGLPVDTRRKYRTRTSQGNSFNPVWDEEPFDFPKVVLPTLASLRIAAFEEGGKFVGHRILPVSAIRSGYHYVCL
  RNEANQPLCLPALLIYTEASDYIPDDHQDYAEALINPIKHVSLMDQRARQLAALIGESEAQAGQETCQDTQSQQL
  GSQPSSNPTPSPLDASPRRPPGPTTSPASTSLSSPGQRDDLIASILSEVAPTPLDELRGHKALVKLRSRQERDLR
  ELRKKHQRKAVTLTRRLLDGLAQAQAEGRCRLRPGALGGAADVEDTKEGEDEAKRYQEFQNRQVQSLLELREAQV
  DAEAQRRLEHLRQALQRLREVVLDANTTQFKRLKEMNEREKKELQKILDRKRHNSISEAKMRDKHKKEAELTEIN
  RRHITESVNSIRRLEEAQKQRHDRLVAGQQQVLQQLAEEEPKLLAQLAQECQEQRARLPQEIRRSLLGEMPEGLG
  DGPLVACASNGHAPGSSGHLSGADSESQEENTQL

• Structural information:
  • Protein Domains: (318..46-)
    (/note="PI-PLC-X-box)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00270-)
    (590..70-)
    (/note="PI-PLC-Y-box)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00271-)
    (707..83-)
    (/note="C2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU-)
  • Interpro: IPR000008  IPR035892  IPR011992  IPR001192  IPR016280   IPR014815  IPR042531  IPR037862  IPR017946  IPR015359  IPR000909  IPR001711  
  • Prosite: PS50004 PS50007 PS50008
  • CDD: cd13361
  • PDB: 3OHM 4GNK 4QJ3 4QJ4 4QJ5
  • PDBsum: 3OHM 4GNK 4QJ3 4QJ4 4QJ5
  • DIP: 41928
  • STRING: ENSP00000443631
• Other Databases: GeneCards:  PLCB3  Malacards:  PLCB3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032959	inositol trisphosphate biosynthetic process	IBA	biological process
GO:0048015	phosphatidylinositol-mediated signaling	IBA	biological process
GO:0051209	release of sequestered calcium ion into cytosol	IBA	biological process
GO:0004435	phosphatidylinositol phospholipase C activity	IBA	molecular function
GO:0005516	calmodulin binding	IBA	molecular function
GO:0004435	phosphatidylinositol phospholipase C activity	IEA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0008081	phosphoric diester hydrolase activity	IEA	molecular function
GO:0016042	lipid catabolic process	IEA	biological process
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016042	lipid catabolic process	IEA	biological process
GO:0004629	phospholipase C activity	TAS	molecular function
GO:0004435	phosphatidylinositol phospholipase C activity	IEA	molecular function
GO:0032991	protein-containing complex	IDA	cellular component
GO:0003073	regulation of systemic arterial blood pressure	IDA	biological process
GO:0004629	phospholipase C activity	TAS	molecular function
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0007223	Wnt signaling pathway, calcium modulating pathway	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0043647	inositol phosphate metabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0099524	postsynaptic cytosol	IEA	cellular component
GO:0005516	calmodulin binding	IDA	molecular function
GO:0045296	cadherin binding	HDA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa05200	Pathways in cancer
hsa05010	Alzheimer disease
hsa05016	Huntington disease
hsa05131	Shigellosis
hsa04015	Rap1 signaling pathway
hsa05163	Human cytomegalovirus infection
hsa04020	Calcium signaling pathway
hsa04062	Chemokine signaling pathway
hsa04310	Wnt signaling pathway
hsa04022	cGMP-PKG signaling pathway
hsa04621	NOD-like receptor signaling pathway
hsa04723	Retrograde endocannabinoid signaling
hsa05017	Spinocerebellar ataxia
hsa04261	Adrenergic signaling in cardiomyocytes
hsa04934	Cushing syndrome
hsa04072	Phospholipase D signaling pathway
hsa04921	Oxytocin signaling pathway
hsa04371	Apelin signaling pathway
hsa04728	Dopaminergic synapse
hsa04724	Glutamatergic synapse
hsa04270	Vascular smooth muscle contraction
hsa04611	Platelet activation
hsa04926	Relaxin signaling pathway
hsa04071	Sphingolipid signaling pathway
hsa04725	Cholinergic synapse
hsa04070	Phosphatidylinositol signaling system
hsa04935	Growth hormone synthesis, secretion and action
hsa04919	Thyroid hormone signaling pathway
hsa04915	Estrogen signaling pathway
hsa04726	Serotonergic synapse
hsa04922	Glucagon signaling pathway
hsa04916	Melanogenesis
hsa04713	Circadian entrainment
hsa04925	Aldosterone synthesis and secretion
hsa04928	Parathyroid hormone synthesis, secretion and action
hsa04972	Pancreatic secretion
hsa04750	Inflammatory mediator regulation of TRP channels
hsa04970	Salivary secretion
hsa04912	GnRH signaling pathway
hsa04911	Insulin secretion
hsa05142	Chagas disease
hsa04540	Gap junction
hsa04933	AGE-RAGE signaling pathway in diabetic complications
hsa00562	Inositol phosphate metabolism
hsa05146	Amoebiasis
hsa04971	Gastric acid secretion
hsa04918	Thyroid hormone synthesis
hsa04720	Long-term potentiation
hsa04924	Renin secretion
hsa04961	Endocrine and other factor-regulated calcium reabsorption
hsa04927	Cortisol synthesis and secretion
hsa04929	GnRH secretion
hsa04730	Long-term depression
hsa04973	Carbohydrate digestion and absorption
hsa05143	African trypanosomiasis

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq