Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 5331
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

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 (64251522: 64269451)     Exons: 33     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 signal transduction. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
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: 138,799

Sequence MAGAQPGVHALQLEPPTVVETLRRGSKFIKWDEETSSRNLVTLRVDPNGFFLYWTGPNMEVDTLDISSIRDTRTG
RYARLPKDPKIREVLGFGGPDARLEEKLMTVVSGPDPVNTVFLNFMAVQDDTAKVWSEELFKLAMNILAQNASRN
TFLRKAYTKLKLQVNQDGRIPVKNILKMFSADKKRVETALESCGLKFNRSESIRPDEFSLEIFERFLNKLCLRPD
IDKILLEIGAKGKPYLTLEQLMDFINQKQRDPRLNEVLYPPLRPSQARLLIEKYEPNQQFLERDQMSMEGFSRYL
GGEENGILPLEALDLSTDMTQPLSAYFINSSHNTYLTAGQLAGTSSVEMYRQALLWGCRCVELDVWKGRPPEEEP
FITHGFTMTTEVPLRDVLEAIAETAFKTSPYPVILSFENHVDSAKQQAKMAEYCRSIFGDALLIEPLDKYPLAPG
VPLPSPQDLMGRILVKNKKRHRPSAGGPDSAGRKRPLEQSNSALSESSAATEPSSPQLGSPSSDSCPGLSNGEEV
GLEKPSLEPQKSLGDEGLNRGPYVLGPADREDEEEDEEEEEQTDPKKPTTDEGTASSEVNATEEMSTLVNYIEPV
KFKSFEAARKRNKCFEMSSFVETKAMEQLTKSPMEFVEYNKQQLSRIYPKGTRVDSSNYMPQLFWNVGCQLVALN
FQTLDVAMQLNAGVFEYNGRSGYLLKPEFMRRPDKSFDPFTEVIVDGIVANALRVKVISGQFLSDRKVGIYVEVD
MFGLPVDTRRKYRTRTSQGNSFNPVWDEEPFDFPKVVLPTLASLRIAAFEEGGKFVGHRILPVSAIRSGYHYVCL
RNEANQPLCLPALLIYTEASDYIPDDHQDYAEALINPIKHVSLMDQRARQLAALIGESEAQAGQETCQDTQSQQL
GSQPSSNPTPSPLDASPRRPPGPTTSPASTSLSSPGQRDDLIASILSEVAPTPLDELRGHKALVKLRSRQERDLR
ELRKKHQRKAVTLTRRLLDGLAQAQAEGRCRLRPGALGGAADVEDTKEGEDEAKRYQEFQNRQVQSLLELREAQV
DAEAQRRLEHLRQALQRLREVVLDANTTQFKRLKEMNEREKKELQKILDRKRHNSISEAKMRDKHKKEAELTEIN
RRHITESVNSIRRLEEAQKQRHDRLVAGQQQVLQQLAEEEPKLLAQLAQECQEQRARLPQEIRRSLLGEMPEGLG
DGPLVACASNGHAPGSSGHLSGADSESQEENTQL
Structural information
Protein Domains
PI-PLC (318-468)
PI-PLC (590-706)
C2. (713-810)
Interpro:  IPR000008 IPR011992 IPR011993 IPR001192 IPR016280 IPR028390 IPR014815 IPR017946 IPR015359 IPR000909 IPR001711
Prosite:   PS50004 PS50007 PS50008

Pfam:  
PF00168 PF09279 PF00388 PF00387 PF08703

PDB:  
3OHM 4GNK 4QJ3 4QJ4 4QJ5
PDBsum:   3OHM 4GNK 4QJ3 4QJ4 4QJ5

DIP:  
41928
MINT:   4999151
STRING:   ENSP00000279230;
Other Databases GeneCards:  PLCB3;  Malacards:  PLCB3

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0003073 regulation of systemic ar
terial blood pressure
IDA biological_process
GO:0004435 phosphatidylinositol phos
pholipase C activity
TAS molecular_function
GO:0004629 phospholipase C activity
TAS molecular_function
GO:0004871 signal transducer activit
y
IEA molecular_function
GO:0005509 calcium ion binding
IEA molecular_function
GO:0005516 calmodulin binding
IPI molecular_function
GO:0005654 nucleoplasm
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:0006892 post-Golgi vesicle-mediat
ed transport
IEA biological_process
GO:0007186 G-protein coupled recepto
r signaling pathway
IEA biological_process
GO:0007223 Wnt signaling pathway, ca
lcium modulating pathway
TAS biological_process
GO:0007268 chemical synaptic transmi
ssion
IEA biological_process
GO:0016042 lipid catabolic process
IEA biological_process
GO:0035556 intracellular signal tran
sduction
IEA biological_process
GO:0042383 sarcolemma
IEA cellular_component
GO:0043234 protein complex
IDA cellular_component
GO:0043647 inositol phosphate metabo
lic process
TAS biological_process
GO:0003073 regulation of systemic ar
terial blood pressure
IDA biological_process
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
TAS molecular_function
GO:0004629 phospholipase C activity
IEA molecular_function
GO:0004629 phospholipase C activity
TAS molecular_function
GO:0004871 signal transducer activit
y
IEA molecular_function
GO:0004871 signal transducer activit
y
IEA molecular_function
GO:0005509 calcium ion binding
IEA molecular_function
GO:0005516 calmodulin binding
IPI molecular_function
GO:0005654 nucleoplasm
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:0006892 post-Golgi vesicle-mediat
ed transport
IEA biological_process
GO:0007165 signal transduction
IEA biological_process
GO:0007165 signal transduction
IEA biological_process
GO:0007186 G-protein coupled recepto
r signaling pathway
IEA biological_process
GO:0007223 Wnt signaling pathway, ca
lcium modulating pathway
TAS biological_process
GO:0007268 chemical synaptic transmi
ssion
IEA biological_process
GO:0008081 phosphoric diester hydrol
ase activity
IEA molecular_function
GO:0016020 membrane
IEA cellular_component
GO:0016020 membrane
IEA cellular_component
GO:0016042 lipid catabolic process
IEA biological_process
GO:0016042 lipid catabolic process
IEA biological_process
GO:0016787 hydrolase activity
IEA molecular_function
GO:0035556 intracellular signal tran
sduction
IEA biological_process
GO:0042383 sarcolemma
IEA cellular_component
GO:0043234 protein complex
IDA cellular_component
GO:0043647 inositol phosphate metabo
lic process
TAS biological_process
GO:0003073 regulation of systemic ar
terial blood pressure
IDA biological_process
GO:0004435 phosphatidylinositol phos
pholipase C activity
TAS molecular_function
GO:0004629 phospholipase C activity
TAS molecular_function
GO:0005516 calmodulin binding
IPI molecular_function
GO:0005654 nucleoplasm
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:0007223 Wnt signaling pathway, ca
lcium modulating pathway
TAS biological_process
GO:0043234 protein complex
IDA cellular_component
GO:0043647 inositol phosphate metabo
lic process
TAS 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
Attention-deficit hyperactivity disorder (ADHD) PMID: 21784300
Endometriosis PMID: 22608312
Endometriosis INFBASE22608312

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
22608312 Endometrio
sis


PLCB3
PLCD1
PLCB1
PLCD3
Show abstract