PLCB1
entrez
23236
canonical
uniprot
Q9NQ66
canonical
ensembl
ENSG00000182621
resolver
ensp
ENSP00000338185
resolver
ensp
ENSP00000367908
resolver
genesymbol
PLCB1
resolver
genesymbol_syn
KIAA0581
resolver
hgnc
HGNC:15917
resolver
uniprot
D3DW12
resolver
uniprot
D3DW13
resolver
uniprot
O60325
resolver
uniprot
Q17RQ6
resolver
uniprot
Q5TFF7
resolver
uniprot
Q5TGC9
resolver
uniprot
Q8IV93
resolver
uniprot
Q9BQW2
resolver
uniprot
Q9H4H2
resolver
uniprot
Q9H8H5
resolver
uniprot
Q9NQ65
resolver
uniprot
Q9NQH9
resolver
uniprot
Q9NTH4
resolver
uniprot
Q9UJP6
resolver
uniprot
Q9UM26
resolver
uniprot_entry
PLCB1_HUMAN
resolver
uniprot_sec
D3DW12
resolver
uniprot_sec
D3DW13
resolver
uniprot_sec
O60325
resolver
uniprot_sec
Q17RQ6
resolver
uniprot_sec
Q5TFF7
resolver
uniprot_sec
Q5TGC9
resolver
uniprot_sec
Q8IV93
resolver
uniprot_sec
Q9BQW2
resolver
uniprot_sec
Q9H4H2
resolver
uniprot_sec
Q9H8H5
resolver
uniprot_sec
Q9NQ65
resolver
uniprot_sec
Q9NQH9
resolver
uniprot_sec
Q9NTH4
resolver
uniprot_sec
Q9UJP6
resolver
uniprot_sec
Q9UM26
resolver
amino_acid_sequence
MAGAQPGVHALQLKPVCVSDSLKKGTKFVKWDDDSTIVTPIILRTDPQGFFFYWTDQNKETELLDLSLVKDARCGRHAKAPKDPKLRELLDVGNIGRLEQRMITVVYGPDLVNISHLNLVAFQEEVAKEWTNEVFSLATNLLAQNMSRDAFLEKAYTKLKLQVTPEGRIPLKNIYRLFSADRKRVETALEACSLPSSRNDSIPQEDFTPEVYRVFLNNLCPRPEIDNIFSEFGAKSKPYLTVDQMMDFINLKQRDPRLNEILYPPLKQEQVQVLIEKYEPNNSLARKGQISVDGFMRYLSGEENGVVSPEKLDLNEDMSQPLSHYFINSSHNTYLTAGQLAGNSSVEMYRQVLLSGCRCVELDCWKGRTAEEEPVITHGFTMTTEISFKEVIEAIAECAFKTSPFPILLSFENHVDSPKQQAKMAEYCRLIFGDALLMEPLEKYPLESGVPLPSPMDLMYKILVKNKKKSHKSSEGSGKKKLSEQASNTYSDSSSMFEPSSPGAGEADTESDDDDDDDDCKKSSMDEGTAGSEAMATEEMSNLVNYIQPVKFESFEISKKRNKSFEMSSFVETKGLEQLTKSPVEFVEYNKMQLSRIYPKGTRVDSSNYMPQLFWNAGCQMVALNFQTMDLAMQINMGMYEYNGKSGYRLKPEFMRRPDKHFDPFTEGIVDGIVANTLSVKIISGQFLSDKKVGTYVEVDMFGLPVDTRRKAFKTKTSQGNAVNPVWEEEPIVFKKVVLPTLACLRIAVYEEGGKFIGHRILPVQAIRPGYHYICLRNERNQPLTLPAVFVYIEVKDYVPDTYADVIEALSNPIRYVNLMEQRAKQLAALTLEDEEEVKKEADPGETPSEAPSEARTTPAENGVNHTTTLTPKPPSQALHSQPAPGSVKAPAKTEDLIQSVLTEVEAQTIEELKQQKSFVKLQKKHYKEMKDLVKRHHKKTTDLIKEHTTKYNEIQNDYLRRRAALEKSAKKDSKKKSEPSSPDHGSSTIEQDLAALDAEMTQKLIDLKDKQQQQLLNLRQEQYYSEKYQKREHIKLLIQKLTDVAEECQNNQLKKLKEICEKEKKELKKKMDKKRQEKITEAKSKDKSQMEEEKTEMIRSYIQEVVQYIKRLEEAQSKRQEKLVEKHKEIRQQILDEKPKLQVELEQEYQDKFKRLPLEILEFVQEAMKGKISEDSNHGSAPLSLSSDPGKVNHKTPSSEELGGDIPGKEFDTPL
uniprot
proteins
disease_involvement
DISEASE: Developmental and epileptic encephalopathy 12 (DEE12) [MIM:613722]: A form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG. {ECO:0000269|PubMed:20833646}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.4.11
uniprot
proteins
function
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. {ECO:0000250|UniProtKB:Q9Z1B3, ECO:0000269|PubMed:9188725}.
uniprot
proteins
mass_dalton
138567
uniprot
proteins
post_translational_modification
PTM: Palmitoylated. Palmitoylation at Cys-17 by ZDHHC21 regulates the signaling activity of PLCB1 and the function of the endothelial barrier. Palmitoylation by ZDHHC21 is stimulated by inflammation. {ECO:0000250|UniProtKB:Q9Z1B3}.
uniprot
proteins
pubmed
10760467
uniprot
proteins
pubmed
11118617
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
12168954
uniprot
proteins
pubmed
12799190
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
20833646
uniprot
proteins
pubmed
9188725
uniprot
proteins
pubmed
9628581
uniprot
proteins
sequence_length
1216
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus membrane {ECO:0000250|UniProtKB:Q9Z1B3}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q9Z1B3}. Cytoplasm {ECO:0000250|UniProtKB:P10687}. Note=Colocalizes with the adrenergic receptors, ADREN1A and ADREN1B, at the nuclear membrane of cardiac myocytes. {ECO:0000250|UniProtKB:Q9Z1B3}.
uniprot
proteins