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
Disease Acronyms (UniProt) Disease acronyms from UniProt database
DEE12
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 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
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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Infantile Spasms infantile spasms GenCC
Malignant migrating partial seizures of infancy malignant migrating partial seizures of infancy GenCC
Developmental And Epileptic Encephalopathy genetic developmental and epileptic encephalopathy GenCC
Kidney Disease Kidney Disease GWAS
Associations from Text Mining
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