Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23236
Gene name Gene Name - the full gene name approved by the HGNC.
Phospholipase C beta 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PLCB1
Synonyms (NCBI Gene) Gene synonyms aliases
DEE12, EIEE12, PI-PLC, PLC-154, PLC-I, PLC-beta-1, PLC154, PLCB1A, PLCB1B
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20p12.3
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT047991 hsa-miR-30c-5p CLASH 23622248
MIRT038084 hsa-miR-423-5p CLASH 23622248
MIRT555570 hsa-miR-501-3p PAR-CLIP 21572407
MIRT555569 hsa-miR-502-3p PAR-CLIP 21572407
MIRT555568 hsa-miR-511-3p PAR-CLIP 21572407
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000086 Process G2/M transition of mitotic cell cycle IEA
GO:0000086 Process G2/M transition of mitotic cell cycle ISS
GO:0000785 Component Chromatin IEA
GO:0000785 Component Chromatin ISS
GO:0004435 Function Phosphatidylinositol-4,5-bisphosphate phospholipase C activity IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607120 15917 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 f
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
AFQEEVAKEWTNEVFSLATNLLAQN
MSRDAFLEKAYTKLKLQVTPEGRIPLKNIYRLFSA
DRKRVETALEACSLPSSRNDSIPQEDFTPEVYRVFLNNLCPRPEIDNIFSEFGAKSKPYL
TVDQMMDFINLKQRDPRLNEILYPPLKQEQVQVLIEKYEPNNSLARKGQISVDGFMRYLS
GEENGVVSP
EKLDLNEDMSQPLSHYFINSSHNTYLTAGQLAGNSSVEMYRQVLLSGCRCV
ELDCWKGRTAEEEPVITHGFTMTTEISFKEVIEAIAECAFKTSPFPILLSFENHVDSPKQ
QAKMAEYCRLIFGDALLMEPLEKYPLESGVPLPSPMDLMYKILVKNKK
KSHKSSEGSGKK
KLSEQASNTYSDSSSMFEPSSPGAGEADTESDDDDDDDDCKKSSMDEGTAGSEAMATEEM
SNLVNYIQPVKFESFEISKKRNKSFEMSSFVETKGLEQLTKSPVEFVEYNKMQLSRIYPK
GTRVDSSNYMPQLFWNAGCQMVALNFQTMDLAMQINMGMYEYNGKSGYRLKPEF
MRRPDK
HFDPFTEGIVDGIVANTLSVKIISGQFLSDKKVGTYVEVDMFGLPVDTRRKAFKTKTSQG
NAVNPVWEEEPIVFKKVVLPTLACLRIAVYEEGGKFIGHRILPVQAIRPGYHYICLRNER
NQPLTLPAVFVYIEVKDYVPDTYADVIEALSNPIRYVNLMEQRAKQLAALTLEDEEEVKK
EADPGETPSEAPSEARTTPAENGVNHTTTLTPKPPSQALHSQPAPGSVKAPAKTEDLIQS
VLTEVEAQTIEELKQQKSFVKLQKKHYKEMKDLVKRHHKKTTDLIKEHTTKYNEIQNDYL
RRRAALEKSAKKDSKKKSEPSSPDHGSSTIEQDLAALDAEMTQKLIDLKDKQQQQLLNLR
QEQYYSEKYQKREHIKLLIQKLTDVAEECQNNQLKKLKEICEKEKKELKKKMDKKRQEKI
TEAKSKDKSQMEEEKTEMIRSYIQEVVQYIKRLEEAQSKRQEKLVEKHKEIRQQILDEKP
KLQVELEQEYQDKFKRLPLEILEFVQEAMKGKISED
SNHGSAPLSLSSDPGKVNHKTPSS
EELGGDIPGKEFDTPL
Sequence length 1216
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Inositol phosphate metabolism
Metabolic pathways
Rap1 signaling pathway
Calcium signaling pathway
cGMP-PKG signaling pathway
Chemokine signaling pathway
Phosphatidylinositol signaling system
Sphingolipid signaling pathway
Phospholipase D signaling pathway
Hormone signaling
Adrenergic signaling in cardiomyocytes
Vascular smooth muscle contraction
Wnt signaling pathway
Apelin signaling pathway
Gap junction
Platelet activation
Neutrophil extracellular trap formation
NOD-like receptor signaling pathway
Circadian entrainment
Long-term potentiation
Retrograde endocannabinoid signaling
Glutamatergic synapse
Cholinergic synapse
Serotonergic synapse
Dopaminergic synapse
Long-term depression
Taste transduction
Inflammatory mediator regulation of TRP channels
Insulin secretion
GnRH signaling pathway
Estrogen signaling pathway
Melanogenesis
Thyroid hormone synthesis
Thyroid hormone signaling pathway
Oxytocin signaling pathway
Glucagon signaling pathway
Renin secretion
Aldosterone synthesis and secretion
Relaxin signaling pathway
Cortisol synthesis and secretion
Parathyroid hormone synthesis, secretion and action
GnRH secretion
AGE-RAGE signaling pathway in diabetic complications
Cushing syndrome
Growth hormone synthesis, secretion and action
Endocrine and other factor-regulated calcium reabsorption
Salivary secretion
Gastric acid secretion
Pancreatic secretion
Carbohydrate digestion and absorption
Alzheimer disease
Huntington disease
Spinocerebellar ataxia
Pathways of neurodegeneration - multiple diseases
Shigellosis
Chagas disease
African trypanosomiasis
Amoebiasis
Human cytomegalovirus infection
Pathways in cancer
Diabetic cardiomyopathy
Lipid and atherosclerosis
  PLC beta mediated events
Synthesis of IP3 and IP4 in the cytosol
Acetylcholine regulates insulin secretion
Ca2+ pathway
G alpha (q) signalling events
G beta:gamma signalling through PLC beta
Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion
Presynaptic function of Kainate receptors
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Developmental And Epileptic Encephalopathy Developmental and epileptic encephalopathy, 12 rs1568577135, rs1600278094, rs990536521 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Endometriosis Endometriosis N/A N/A GWAS
Epileptic encephalopathy Early Infantile Epileptic Encephalopathy, Autosomal Recessive N/A N/A ClinVar
Hypertension Hypertension (confirmatory factor analysis Factor 12), Hypertension N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 36550819
Alzheimer Disease Associate 37833700
Astrocytoma Stimulate 26614510
Autistic Disorder Associate 23375656
Bipolar Disorder Associate 21494683
Brain Diseases Associate 24684524
Breast Neoplasms Associate 28112359, 33962648, 35045088
Carcinoma Hepatocellular Associate 30896816, 32763246
Carcinoma Non Small Cell Lung Associate 31080817
Cardiovascular Diseases Associate 36875456