PLCB1 (phospholipase C beta 1)

Gene

• Entrez ID: 23236
• Gene name: Phospholipase C beta 1
• Gene symbol: PLCB1
• Synonyms: DEE12, EIEE12, PI-PLC, PLC-154, PLC-I, PLC-beta-1, PLC154, PLCB1A, PLCB1B
• Chromosome: 20
• Chromosome location: 20p12.3
• 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 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]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs3761169	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant
rs28390202	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant, 3 prime UTR variant
rs35245209	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs45492700	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs45608240	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign, benign	Coding sequence variant, missense variant
rs75820839	T>C	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, missense variant
rs141433824	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant, missense variant
rs141857911	G>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs145869401	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, synonymous variant
rs148848282	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs150804955	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, 3 prime UTR variant, synonymous variant
rs186429469	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant, 3 prime UTR variant
rs189186909	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant
rs369652433	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs577076166	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, synonymous variant
rs1060499765	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1555790846	C>T	Pathogenic	Coding sequence variant, missense variant
rs1568571093	T>A	Pathogenic	Stop gained, coding sequence variant
rs1568577135	CTGT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1600278094	G>T	Pathogenic	Stop gained, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT038084	hsa-miR-423-5p	CLASH	23622248
MIRT047991	hsa-miR-30c-5p	CLASH	23622248
MIRT555562	hsa-miR-297	PAR-CLIP	21572407
MIRT555563	hsa-miR-4325	PAR-CLIP	21572407
MIRT555564	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT555565	hsa-miR-567	PAR-CLIP	21572407
MIRT555566	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT555567	hsa-miR-3607-5p	PAR-CLIP	21572407
MIRT555568	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT555569	hsa-miR-502-3p	PAR-CLIP	21572407
MIRT555570	hsa-miR-501-3p	PAR-CLIP	21572407

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000086	Process	G2/M transition of mitotic cell cycle	ISS
GO:0000785	Component	Chromatin	ISS
GO:0004435	Function	Phosphatidylinositol phospholipase C activity	IBA	21873635
GO:0004435	Function	Phosphatidylinositol phospholipase C activity	IDA	9188725
GO:0004435	Function	Phosphatidylinositol phospholipase C activity	ISS
GO:0004435	Function	Phosphatidylinositol phospholipase C activity	NAS	11118617
GO:0004629	Function	Phospholipase C activity	TAS
GO:0005096	Function	GTPase activator activity	IDA	1322796
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	25416956
GO:0005516	Function	Calmodulin binding	IBA	21873635
GO:0005516	Function	Calmodulin binding	IDA	12821674
GO:0005521	Function	Lamin binding	IEA
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IDA	12799190
GO:0005634	Component	Nucleus	NAS	10760467
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005737	Component	Cytoplasm	IDA	11118617
GO:0005829	Component	Cytosol	TAS
GO:0007165	Process	Signal transduction	NAS	11118617
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS
GO:0007213	Process	G protein-coupled acetylcholine receptor signaling pathway	ISS
GO:0007215	Process	Glutamate receptor signaling pathway	ISS
GO:0007223	Process	Wnt signaling pathway, calcium modulating pathway	TAS
GO:0007613	Process	Memory	IBA	21873635
GO:0007613	Process	Memory	ISS
GO:0008277	Process	Regulation of G protein-coupled receptor signaling pathway	ISS
GO:0016042	Process	Lipid catabolic process	IEA
GO:0016607	Component	Nuclear speck	IBA	21873635
GO:0016607	Component	Nuclear speck	IDA	12799190
GO:0019899	Function	Enzyme binding	IPI	12799190
GO:0021987	Process	Cerebral cortex development	ISS
GO:0031965	Component	Nuclear membrane	IEA
GO:0032735	Process	Positive regulation of interleukin-12 production	ISS
GO:0032991	Component	Protein-containing complex	IEA
GO:0035722	Process	Interleukin-12-mediated signaling pathway	IDA	11743656
GO:0035723	Process	Interleukin-15-mediated signaling pathway	IDA	11743656
GO:0040019	Process	Positive regulation of embryonic development	ISS
GO:0042802	Function	Identical protein binding	ISS
GO:0043547	Process	Positive regulation of GTPase activity	IEA
GO:0043647	Process	Inositol phosphate metabolic process	TAS
GO:0045444	Process	Fat cell differentiation	IEA
GO:0045663	Process	Positive regulation of myoblast differentiation	ISS
GO:0045892	Process	Negative regulation of transcription, DNA-templated	ISS
GO:0045893	Process	Positive regulation of transcription, DNA-templated	ISS
GO:0046330	Process	Positive regulation of JNK cascade	IDA	9500449
GO:0046488	Process	Phosphatidylinositol metabolic process	IDA	9188725
GO:0046488	Process	Phosphatidylinositol metabolic process	ISS
GO:0048009	Process	Insulin-like growth factor receptor signaling pathway	ISS
GO:0048015	Process	Phosphatidylinositol-mediated signaling	IBA	21873635
GO:0048639	Process	Positive regulation of developmental growth	ISS
GO:0060466	Process	Activation of meiosis involved in egg activation	ISS
GO:0070062	Component	Extracellular exosome	HDA	19199708
GO:0070498	Process	Interleukin-1-mediated signaling pathway	IDA	8872139
GO:0080154	Process	Regulation of fertilization	ISS
GO:0098794	Component	Postsynapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0098982	Component	GABA-ergic synapse	IEA
GO:0099170	Process	Postsynaptic modulation of chemical synaptic transmission	IEA
GO:0099178	Process	Regulation of retrograde trans-synaptic signaling by endocanabinoid	IEA
GO:1900087	Process	Positive regulation of G1/S transition of mitotic cell cycle	ISS
GO:1903140	Process	Regulation of establishment of endothelial barrier	IEA
GO:2000344	Process	Positive regulation of acrosome reaction	ISS
GO:2000438	Process	Negative regulation of monocyte extravasation	ISS
GO:2000560	Process	Positive regulation of CD24 production	ISS

Other IDs

• MIM: 607120
• HGNC: 15917
• e!Ensembl: ENSG00000182621

Protein

• UniProt ID: Q9NQ66
• Protein 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)
• Protein function: Catalyzes the hydrolysis of 1-phosphatidylinositol 4,5-bisphosphate into diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) and mediates intracellular signaling downstream of G protein-coupled receptors (PubMed:9188725). Regulates the function of the endothelial barrier.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF17787	PH_14	17 → 145	PH domain	Domain
  PF09279	EF-hand_like	215 → 309	Phosphoinositide-specific phospholipase C, efhand-like	Domain
  PF00388	PI-PLC-X	318 → 468	Phosphatidylinositol-specific phospholipase C, X domain	Family
  PF00387	PI-PLC-Y	540 → 654	Phosphatidylinositol-specific phospholipase C, Y domain	Family
  PF06631	DUF1154	903 → 946	Protein of unknown function (DUF1154)	Family
  PF08703	PLC-beta_C	1003 → 1176	PLC-beta C terminal	Domain

• Sequence:

  MAGAQPGVHALQLKPVCVSDSLKKGTKFVKWDDDSTIVTPIILRTDPQGFFFYWTDQNKE
  TELLDLSLVKDARCGRHAKAPKDPKLRELLDVGNIGRLEQRMITVVYGPDLVNISHLNLV
  AFQEEVAKEWTNEVFSLATNLLAQNMSRDAFLEKAYTKLKLQVTPEGRIPLKNIYRLFSA
  DRKRVETALEACSLPSSRNDSIPQEDFTPEVYRVFLNNLCPRPEIDNIFSEFGAKSKPYL
  TVDQMMDFINLKQRDPRLNEILYPPLKQEQVQVLIEKYEPNNSLARKGQISVDGFMRYLS
  GEENGVVSPEKLDLNEDMSQPLSHYFINSSHNTYLTAGQLAGNSSVEMYRQVLLSGCRCV
  ELDCWKGRTAEEEPVITHGFTMTTEISFKEVIEAIAECAFKTSPFPILLSFENHVDSPKQ
  QAKMAEYCRLIFGDALLMEPLEKYPLESGVPLPSPMDLMYKILVKNKKKSHKSSEGSGKK
  KLSEQASNTYSDSSSMFEPSSPGAGEADTESDDDDDDDDCKKSSMDEGTAGSEAMATEEM
  SNLVNYIQPVKFESFEISKKRNKSFEMSSFVETKGLEQLTKSPVEFVEYNKMQLSRIYPK
  GTRVDSSNYMPQLFWNAGCQMVALNFQTMDLAMQINMGMYEYNGKSGYRLKPEFMRRPDK
  HFDPFTEGIVDGIVANTLSVKIISGQFLSDKKVGTYVEVDMFGLPVDTRRKAFKTKTSQG
  NAVNPVWEEEPIVFKKVVLPTLACLRIAVYEEGGKFIGHRILPVQAIRPGYHYICLRNER
  NQPLTLPAVFVYIEVKDYVPDTYADVIEALSNPIRYVNLMEQRAKQLAALTLEDEEEVKK
  EADPGETPSEAPSEARTTPAENGVNHTTTLTPKPPSQALHSQPAPGSVKAPAKTEDLIQS
  VLTEVEAQTIEELKQQKSFVKLQKKHYKEMKDLVKRHHKKTTDLIKEHTTKYNEIQNDYL
  RRRAALEKSAKKDSKKKSEPSSPDHGSSTIEQDLAALDAEMTQKLIDLKDKQQQQLLNLR
  QEQYYSEKYQKREHIKLLIQKLTDVAEECQNNQLKKLKEICEKEKKELKKKMDKKRQEKI
  TEAKSKDKSQMEEEKTEMIRSYIQEVVQYIKRLEEAQSKRQEKLVEKHKEIRQQILDEKP
  KLQVELEQEYQDKFKRLPLEILEFVQEAMKGKISEDSNHGSAPLSLSSDPGKVNHKTPSS
  EELGGDIPGKEFDTPL

• Sequence length: 1216