Endometriosis Knowledgebase

Search Result

Gene id

23236

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

PLCB1 Gene UCSC Ensembl

Aliases

EIEE12, PI-PLC, PLC-154, PLC-I, PLC-beta-1, PLC154, PLCB1A, PLCB1B

Gene name

phospholipase C beta 1

Alternate names

1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1, 1-phosphatidyl-D-myo-inositol-4,5-bisphosphate, inositoltrisphosphohydrolase, monophosphatidylinositol phosphodiesterase, phosphoinositidase C, phospholipase C, beta 1 (phosphoinositide-specific,

Gene location

20p12.3 (8132235: 8884910) Exons: 38 NC_000020.11

Gene summary(Entrez)

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 many extracellular signals. This gene is activated by two G-protein alpha subunits, alpha-q and alpha-11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

OMIM

607120

Protein Summary

Protein general information

Q9NQ66

Name: 1 phosphatidylinositol 4,5 bisphosphate phosphodiesterase beta 1 (EC 3.1.4.11) (PLC 154) (Phosphoinositide phospholipase C beta 1) (Phospholipase C I) (PLC I) (Phospholipase C beta 1) (PLC beta 1)

Length: 1216 Mass: 138,567

Sequence

MAGAQPGVHALQLKPVCVSDSLKKGTKFVKWDDDSTIVTPIILRTDPQGFFFYWTDQNKETELLDLSLVKDARCG
RHAKAPKDPKLRELLDVGNIGRLEQRMITVVYGPDLVNISHLNLVAFQEEVAKEWTNEVFSLATNLLAQNMSRDA
FLEKAYTKLKLQVTPEGRIPLKNIYRLFSADRKRVETALEACSLPSSRNDSIPQEDFTPEVYRVFLNNLCPRPEI
DNIFSEFGAKSKPYLTVDQMMDFINLKQRDPRLNEILYPPLKQEQVQVLIEKYEPNNSLARKGQISVDGFMRYLS
GEENGVVSPEKLDLNEDMSQPLSHYFINSSHNTYLTAGQLAGNSSVEMYRQVLLSGCRCVELDCWKGRTAEEEPV
ITHGFTMTTEISFKEVIEAIAECAFKTSPFPILLSFENHVDSPKQQAKMAEYCRLIFGDALLMEPLEKYPLESGV
PLPSPMDLMYKILVKNKKKSHKSSEGSGKKKLSEQASNTYSDSSSMFEPSSPGAGEADTESDDDDDDDDCKKSSM
DEGTAGSEAMATEEMSNLVNYIQPVKFESFEISKKRNKSFEMSSFVETKGLEQLTKSPVEFVEYNKMQLSRIYPK
GTRVDSSNYMPQLFWNAGCQMVALNFQTMDLAMQINMGMYEYNGKSGYRLKPEFMRRPDKHFDPFTEGIVDGIVA
NTLSVKIISGQFLSDKKVGTYVEVDMFGLPVDTRRKAFKTKTSQGNAVNPVWEEEPIVFKKVVLPTLACLRIAVY
EEGGKFIGHRILPVQAIRPGYHYICLRNERNQPLTLPAVFVYIEVKDYVPDTYADVIEALSNPIRYVNLMEQRAK
QLAALTLEDEEEVKKEADPGETPSEAPSEARTTPAENGVNHTTTLTPKPPSQALHSQPAPGSVKAPAKTEDLIQS
VLTEVEAQTIEELKQQKSFVKLQKKHYKEMKDLVKRHHKKTTDLIKEHTTKYNEIQNDYLRRRAALEKSAKKDSK
KKSEPSSPDHGSSTIEQDLAALDAEMTQKLIDLKDKQQQQLLNLRQEQYYSEKYQKREHIKLLIQKLTDVAEECQ
NNQLKKLKEICEKEKKELKKKMDKKRQEKITEAKSKDKSQMEEEKTEMIRSYIQEVVQYIKRLEEAQSKRQEKLV
EKHKEIRQQILDEKPKLQVELEQEYQDKFKRLPLEILEFVQEAMKGKISEDSNHGSAPLSLSSDPGKVNHKTPSS
EELGGDIPGKEFDTPL

Structural information

Protein Domains	PI-PLC (316-467) PI-PLC (540-656) C2. (663-761)
Interpro:	IPR000008 IPR011992 IPR011993 IPR001192 IPR016280 IPR028400 IPR014815 IPR009535 IPR017946 IPR015359 IPR000909 IPR001711
Prosite:	PS50004 PS50007 PS50008
Pfam:	PF06631 PF09279 PF00388 PF00387 PF08703
MINT:	5005654
STRING:	ENSP00000338185;

Other Databases

GeneCards: PLCB1; Malacards: PLCB1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000086	G2/M transition of mitoti c cell cycle	ISS	biological_process
GO:0000790	nuclear chromatin	ISS	cellular_component
GO:0004435	phosphatidylinositol phos pholipase C activity	ISS	molecular_function
GO:0004435	phosphatidylinositol phos pholipase C activity	ISS	molecular_function
GO:0004435	phosphatidylinositol phos pholipase C activity	ISS	molecular_function
GO:0004435	phosphatidylinositol phos pholipase C activity	NAS	molecular_function
GO:0004435	phosphatidylinositol phos pholipase C activity	TAS	molecular_function
GO:0004871	signal transducer activit y	IEA	molecular_function
GO:0005096	GTPase activator activity	IDA	molecular_function
GO:0005509	calcium ion binding	IEA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005516	calmodulin binding	IPI	molecular_function
GO:0005521	lamin binding	IEA	molecular_function
GO:0005546	phosphatidylinositol-4,5- bisphosphate binding	IDA	molecular_function
GO:0005634	nucleus	NAS	cellular_component
GO:0005737	cytoplasm	IDA	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:0005829	cytosol	TAS	cellular_component
GO:0007165	signal transduction	NAS	biological_process
GO:0007213	G-protein coupled acetylc holine receptor signaling pathway	ISS	biological_process
GO:0007215	glutamate receptor signal ing pathway	ISS	biological_process
GO:0007223	Wnt signaling pathway, ca lcium modulating pathway	TAS	biological_process
GO:0007613	memory	ISS	biological_process
GO:0008277	regulation of G-protein c oupled receptor protein s ignaling pathway	ISS	biological_process
GO:0016042	lipid catabolic process	IEA	biological_process
GO:0016607	nuclear speck	IDA	cellular_component
GO:0019899	enzyme binding	IPI	molecular_function
GO:0021987	cerebral cortex developme nt	ISS	biological_process
GO:0031965	nuclear membrane	IEA	cellular_component
GO:0032735	positive regulation of in terleukin-12 production	ISS	biological_process
GO:0035556	intracellular signal tran sduction	IEA	biological_process
GO:0035722	interleukin-12-mediated s ignaling pathway	IDA	biological_process
GO:0035723	interleukin-15-mediated s ignaling pathway	IDA	biological_process
GO:0040019	positive regulation of em bryonic development	ISS	biological_process
GO:0042803	protein homodimerization activity	ISS	molecular_function
GO:0043209	myelin sheath	IEA	cellular_component
GO:0043547	positive regulation of GT Pase activity	IEA	biological_process
GO:0043647	inositol phosphate metabo lic process	TAS	biological_process
GO:0045444	fat cell differentiation	IEA	biological_process
GO:0045663	positive regulation of my oblast differentiation	ISS	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	ISS	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	ISS	biological_process
GO:0046330	positive regulation of JN K cascade	IDA	biological_process
GO:0046488	phosphatidylinositol meta bolic process	ISS	biological_process
GO:0048009	insulin-like growth facto r receptor signaling path way	ISS	biological_process
GO:0048639	positive regulation of de velopmental growth	ISS	biological_process
GO:0060466	activation of meiosis inv olved in egg activation	ISS	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070498	interleukin-1-mediated si gnaling pathway	IDA	biological_process
GO:0080154	regulation of fertilizati on	ISS	biological_process
GO:1900087	positive regulation of G1 /S transition of mitotic cell cycle	ISS	biological_process
GO:2000344	positive regulation of ac rosome reaction	ISS	biological_process
GO:2000438	negative regulation of mo nocyte extravasation	ISS	biological_process
GO:2000560	positive regulation of CD 24 biosynthetic process	ISS	biological_process
GO:0000086	G2/M transition of mitoti c cell cycle	IEA	biological_process
GO:0000086	G2/M transition of mitoti c cell cycle	ISS	biological_process
GO:0000790	nuclear chromatin	IEA	cellular_component
GO:0000790	nuclear chromatin	ISS	cellular_component
GO:0004435	phosphatidylinositol phos pholipase C activity	IEA	molecular_function
GO:0004435	phosphatidylinositol phos pholipase C activity	IEA	molecular_function
GO:0004435	phosphatidylinositol phos pholipase C activity	IEA	molecular_function
GO:0004435	phosphatidylinositol phos pholipase C activity	ISS	molecular_function
GO:0004435	phosphatidylinositol phos pholipase C activity	ISS	molecular_function
GO:0004435	phosphatidylinositol phos pholipase C activity	ISS	molecular_function
GO:0004435	phosphatidylinositol phos pholipase C activity	NAS	molecular_function
GO:0004435	phosphatidylinositol phos pholipase C activity	TAS	molecular_function
GO:0004871	signal transducer activit y	IEA	molecular_function
GO:0005096	GTPase activator activity	IDA	molecular_function
GO:0005509	calcium ion binding	IEA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005516	calmodulin binding	IPI	molecular_function
GO:0005521	lamin binding	IEA	molecular_function
GO:0005546	phosphatidylinositol-4,5- bisphosphate binding	IDA	molecular_function
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	NAS	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IDA	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:0005829	cytosol	TAS	cellular_component
GO:0006629	lipid metabolic process	IEA	biological_process
GO:0006629	lipid metabolic process	IEA	biological_process
GO:0007165	signal transduction	IEA	biological_process
GO:0007165	signal transduction	IEA	biological_process
GO:0007165	signal transduction	NAS	biological_process
GO:0007213	G-protein coupled acetylc holine receptor signaling pathway	IEA	biological_process
GO:0007213	G-protein coupled acetylc holine receptor signaling pathway	ISS	biological_process
GO:0007215	glutamate receptor signal ing pathway	IEA	biological_process
GO:0007215	glutamate receptor signal ing pathway	ISS	biological_process
GO:0007223	Wnt signaling pathway, ca lcium modulating pathway	TAS	biological_process
GO:0007420	brain development	IEA	biological_process
GO:0007613	memory	IEA	biological_process
GO:0007613	memory	ISS	biological_process
GO:0008081	phosphoric diester hydrol ase activity	IEA	molecular_function
GO:0008277	regulation of G-protein c oupled receptor protein s ignaling pathway	IEA	biological_process
GO:0008277	regulation of G-protein c oupled receptor protein s ignaling pathway	ISS	biological_process
GO:0016020	membrane	IEA	cellular_component
GO:0016042	lipid catabolic process	IEA	biological_process
GO:0016042	lipid catabolic process	IEA	biological_process
GO:0016607	nuclear speck	IEA	cellular_component
GO:0016607	nuclear speck	IDA	cellular_component
GO:0016787	hydrolase activity	IEA	molecular_function
GO:0019899	enzyme binding	IPI	molecular_function
GO:0021987	cerebral cortex developme nt	IEA	biological_process
GO:0021987	cerebral cortex developme nt	ISS	biological_process
GO:0031965	nuclear membrane	IEA	cellular_component
GO:0032735	positive regulation of in terleukin-12 production	IEA	biological_process
GO:0032735	positive regulation of in terleukin-12 production	ISS	biological_process
GO:0035556	intracellular signal tran sduction	IEA	biological_process
GO:0035722	interleukin-12-mediated s ignaling pathway	IDA	biological_process
GO:0035723	interleukin-15-mediated s ignaling pathway	IDA	biological_process
GO:0040019	positive regulation of em bryonic development	IEA	biological_process
GO:0040019	positive regulation of em bryonic development	ISS	biological_process
GO:0042803	protein homodimerization activity	ISS	molecular_function
GO:0043209	myelin sheath	IEA	cellular_component
GO:0043547	positive regulation of GT Pase activity	IEA	biological_process
GO:0043647	inositol phosphate metabo lic process	TAS	biological_process
GO:0045444	fat cell differentiation	IEA	biological_process
GO:0045663	positive regulation of my oblast differentiation	IEA	biological_process
GO:0045663	positive regulation of my oblast differentiation	ISS	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IEA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	ISS	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IEA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	ISS	biological_process
GO:0046330	positive regulation of JN K cascade	IDA	biological_process
GO:0046488	phosphatidylinositol meta bolic process	ISS	biological_process
GO:0048009	insulin-like growth facto r receptor signaling path way	IEA	biological_process
GO:0048009	insulin-like growth facto r receptor signaling path way	ISS	biological_process
GO:0048639	positive regulation of de velopmental growth	IEA	biological_process
GO:0048639	positive regulation of de velopmental growth	ISS	biological_process
GO:0051726	regulation of cell cycle	IEA	biological_process
GO:0060466	activation of meiosis inv olved in egg activation	IEA	biological_process
GO:0060466	activation of meiosis inv olved in egg activation	ISS	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070498	interleukin-1-mediated si gnaling pathway	IDA	biological_process
GO:0080154	regulation of fertilizati on	IEA	biological_process
GO:0080154	regulation of fertilizati on	ISS	biological_process
GO:1900087	positive regulation of G1 /S transition of mitotic cell cycle	IEA	biological_process
GO:1900087	positive regulation of G1 /S transition of mitotic cell cycle	ISS	biological_process
GO:2000344	positive regulation of ac rosome reaction	IEA	biological_process
GO:2000344	positive regulation of ac rosome reaction	ISS	biological_process
GO:2000438	negative regulation of mo nocyte extravasation	IEA	biological_process
GO:2000438	negative regulation of mo nocyte extravasation	ISS	biological_process
GO:2000560	positive regulation of CD 24 biosynthetic process	IEA	biological_process
GO:2000560	positive regulation of CD 24 biosynthetic process	ISS	biological_process
GO:0000086	G2/M transition of mitoti c cell cycle	ISS	biological_process
GO:0000790	nuclear chromatin	ISS	cellular_component
GO:0004435	phosphatidylinositol phos pholipase C activity	ISS	molecular_function
GO:0004435	phosphatidylinositol phos pholipase C activity	ISS	molecular_function
GO:0004435	phosphatidylinositol phos pholipase C activity	ISS	molecular_function
GO:0004435	phosphatidylinositol phos pholipase C activity	NAS	molecular_function
GO:0004435	phosphatidylinositol phos pholipase C activity	TAS	molecular_function
GO:0005096	GTPase activator activity	IDA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005516	calmodulin binding	IPI	molecular_function
GO:0005546	phosphatidylinositol-4,5- bisphosphate binding	IDA	molecular_function
GO:0005634	nucleus	NAS	cellular_component
GO:0005737	cytoplasm	IDA	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:0005829	cytosol	TAS	cellular_component
GO:0007165	signal transduction	NAS	biological_process
GO:0007213	G-protein coupled acetylc holine receptor signaling pathway	ISS	biological_process
GO:0007215	glutamate receptor signal ing pathway	ISS	biological_process
GO:0007223	Wnt signaling pathway, ca lcium modulating pathway	TAS	biological_process
GO:0007613	memory	ISS	biological_process
GO:0008277	regulation of G-protein c oupled receptor protein s ignaling pathway	ISS	biological_process
GO:0016607	nuclear speck	IDA	cellular_component
GO:0019899	enzyme binding	IPI	molecular_function
GO:0021987	cerebral cortex developme nt	ISS	biological_process
GO:0032735	positive regulation of in terleukin-12 production	ISS	biological_process
GO:0035722	interleukin-12-mediated s ignaling pathway	IDA	biological_process
GO:0035723	interleukin-15-mediated s ignaling pathway	IDA	biological_process
GO:0040019	positive regulation of em bryonic development	ISS	biological_process
GO:0042803	protein homodimerization activity	ISS	molecular_function
GO:0043647	inositol phosphate metabo lic process	TAS	biological_process
GO:0045663	positive regulation of my oblast differentiation	ISS	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	ISS	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	ISS	biological_process
GO:0046330	positive regulation of JN K cascade	IDA	biological_process
GO:0046488	phosphatidylinositol meta bolic process	ISS	biological_process
GO:0048009	insulin-like growth facto r receptor signaling path way	ISS	biological_process
GO:0048639	positive regulation of de velopmental growth	ISS	biological_process
GO:0060466	activation of meiosis inv olved in egg activation	ISS	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070498	interleukin-1-mediated si gnaling pathway	IDA	biological_process
GO:0080154	regulation of fertilizati on	ISS	biological_process
GO:1900087	positive regulation of G1 /S transition of mitotic cell cycle	ISS	biological_process
GO:2000344	positive regulation of ac rosome reaction	ISS	biological_process
GO:2000438	negative regulation of mo nocyte extravasation	ISS	biological_process
GO:2000560	positive regulation of CD 24 biosynthetic process	ISS	biological_process

KEGG pathways

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

Diseases

Associated diseases	References
Endometriosis	PMID: 22608312
Epileptic encephalopathy	KEGG: H00606, OMIM: 607120
Endometriosis	INFBASE22608312

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
22608312	Endometrio sis					PLCB3 PLCD1 PLCB1 PLCD3	Show abstract