Reactome | UniProt:Q15147 PLCB4

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UniProt:Q15147 PLCB4 Show undefined attributes

chain	initiator methionine:1 chain:2-1175
checksum	AB2C8EB99EF57357
comment	FUNCTION Activated phosphatidylinositol-specific phospholipase C enzymes catalyze the production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) involved in G-protein coupled receptor signaling pathways. PLCB4 is a direct effector of the endothelin receptor signaling pathway that plays an essential role in lower jaw and middle ear structures development (PubMed:35284927).CATALYTIC ACTIVITY a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-4,5-bisphosphate) + H2O = 1D-myo-inositol 1,4,5-trisphosphate + a 1,2-diacyl-sn-glycerol + H(+)CATALYTIC ACTIVITY a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol) + H2O = 1D-myo-inositol 1-phosphate + a 1,2-diacyl-sn-glycerol + H(+)COFACTOR Additional isoforms seem to exist.TISSUE SPECIFICITY Preferentially expressed in the retina.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.
crossReference	[DatabaseIdentifier:12432166] RefSeq:NP_001364065.1 [DatabaseIdentifier:12432167] RefSeq:NP_877949.2 [DatabaseIdentifier:12432170] RefSeq:NP_001166117.1 [DatabaseIdentifier:12432171] RefSeq:XP_047296158.1 [DatabaseIdentifier:12432165] RefSeq:NP_000924.3 [DatabaseIdentifier:12432168] RefSeq:NP_001364064.1 [DatabaseIdentifier:12432169] RefSeq:NP_001364063.1 [DatabaseIdentifier:11501791] ENSEMBL:ENSG00000101333 [DatabaseIdentifier:11612542] ENSEMBL:ENSP00000510302 [DatabaseIdentifier:11612546] ENSEMBL:ENSP00000508600 [DatabaseIdentifier:11612540] ENSEMBL:ENSP00000509912 [DatabaseIdentifier:11612541] ENSEMBL:ENSP00000510632 [DatabaseIdentifier:11612549] ENSEMBL:ENSP00000508595 [DatabaseIdentifier:11612545] ENSEMBL:ENSP00000508677 [DatabaseIdentifier:11612548] ENSEMBL:ENSP00000508650 [DatabaseIdentifier:11612544] ENSEMBL:ENSP00000367762 [DatabaseIdentifier:11612539] ENSEMBL:ENSP00000367754 [DatabaseIdentifier:11612550] ENSEMBL:ENSP00000509597 [DatabaseIdentifier:11612538] ENSEMBL:ENSP00000510118 [DatabaseIdentifier:11612547] ENSEMBL:ENSP00000510124 [DatabaseIdentifier:11612543] ENSEMBL:ENSP00000508676 [DatabaseIdentifier:11735243] ENSEMBL:ENST00000378501 [DatabaseIdentifier:11735247] ENSEMBL:ENST00000689910 [DatabaseIdentifier:11735242] ENSEMBL:ENST00000685310 [DatabaseIdentifier:11735244] ENSEMBL:ENST00000686871 [DatabaseIdentifier:11735238] ENSEMBL:ENST00000378493 [DatabaseIdentifier:11735245] ENSEMBL:ENST00000685110 [DatabaseIdentifier:11735246] ENSEMBL:ENST00000693752 [DatabaseIdentifier:11735248] ENSEMBL:ENST00000693005 [DatabaseIdentifier:11735249] ENSEMBL:ENST00000688656 [DatabaseIdentifier:11735239] ENSEMBL:ENST00000685823 [DatabaseIdentifier:11735237] ENSEMBL:ENST00000685859 [DatabaseIdentifier:11735240] ENSEMBL:ENST00000686976 [DatabaseIdentifier:11735241] ENSEMBL:ENST00000686313 [DatabaseIdentifier:11780773] Guide to Pharmacology - Targets:1406 [DatabaseIdentifier:11794276] GeneCards:PLCB4 [DatabaseIdentifier:11810216] GlyGen:Q15147 [DatabaseIdentifier:11831241] HMDB Protein:HMDBP00223 [DatabaseIdentifier:11847254] HPA:ENSG00000101333-PLCB4 [DatabaseIdentifier:12131926] OpenTargets:ENSG00000101333 [DatabaseIdentifier:12136173] Orphanet:PLCB4 [DatabaseIdentifier:12254316] PRO:Q15147 [DatabaseIdentifier:12292110] Pharos - Targets:Q15147
databaseName	UniProt
dbId	61698
description	recommendedName: fullName evidence="17"1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 ecNumber evidence="1"3.1.4.11 alternativeName: Phosphoinositide phospholipase C-beta-4 alternativeName: Phospholipase C-beta-4 shortName: PLC-beta-4
displayName	UniProt:Q15147 PLCB4
geneName	PLCB4
identifier	Q15147
isSequenceChanged	false
keyword	Acetylation Alternative splicing Calcium Cell membrane Direct protein sequencing Disease variant Hydrolase Lipid degradation Lipid metabolism Membrane Phosphoprotein Proteomics identification Reference proteome Transducer
modified	[InstanceEdit:9963647] Weiser, Joel, 2025-08-15
moleculeType	Protein
name	PLCB4
otherIdentifier	11738021_a_at 11743366_a_at 11743367_a_at 11755050_s_at 11756635_a_at 16911338 203895_PM_at 203895_at 203896_PM_s_at 203896_s_at 240728_PM_at 240728_at 35654_at 3875904 3875909 3875910 3875915 3875919 3875922 3875932 3875933 3875943 3875944 3875945 3875956 3875959 3875960 3875961 3875962 3875963 3875964 3875965 3875969 3875970 3875972 3875973 3875974 3875975 3875978 3875979 3875982 3875985 3875988 3875989 3875990 3875991 3875992 3875993 3875994 3875996 3875997 3875998 3875999 3876006 3876007 3876008 3876012 3876013 3876014 3876015 3876016 3876017 3876018 3876019 3876021 3876023 3876024 3876027 3876028 3876029 3876030 3876031 3876032 3876036 3876037 3876038 3876039 3876040 3876041 3876042 3876062 3876068 3876070 3876071 3876072 3876073 3876075 3876077 3876078 51335_at 5332 57899_r_at 8060897 80794_at 900_at 901_g_at A_14_P122232 A_23_P28898 A_24_P509189 A_33_P3260634 A_33_P3353502 GE56091 GE80968 GO:0004435 GO:0004629 GO:0005509 GO:0005515 GO:0005634 GO:0005783 GO:0005790 GO:0005829 GO:0005886 GO:0006629 GO:0007165 GO:0007186 GO:0008081 GO:0012505 GO:0014069 GO:0016020 GO:0016042 GO:0016787 GO:0030425 GO:0035556 GO:0043226 GO:0046488 GO:0046872 GO:0048015 GO:0050804 GO:0051209 GO:0055085 GO:0098688 GO:0098794 GO:0098978 GO:0120548 GO:0160135 HMNXSV003012117 Hs.151408.0.A1_3p_at Hs.283006.0.S2_3p_at ILMN_1736426 ILMN_1851565 ILMN_2397294 L41349_at PH_hs_0022684 RNA95535\|RNS_617_146 TC20000076.hg g4505866_3p_a_at
physicalEntity	[EntityWithAccessionedSequence:R-HSA-61697] PLCB4 [cytosol] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:ensembl:ENSG00000101333] ENSEMBL:ENSG00000101333 PLCB4 [ReferenceDNASequence:12757419] UCSC:Q15147 PLCB4 [ReferenceDNASequence:11367144] BioGPS Gene:5332 PLCB4 [ReferenceDNASequence:11402157] COSMIC - genes:PLCB4 PLCB4 [ReferenceDNASequence:11422992] CTD Gene:5332 PLCB4 [ReferenceDNASequence:11439600] dbSNP Gene:5332 PLCB4 [ReferenceDNASequence:11825971] HGNC:9059 PLCB4 [ReferenceDNASequence:11905521] KEGG:hsa:5332 PLCB4 [ReferenceDNASequence:11996933] Monarch:5332 PLCB4 [ReferenceDNASequence:12081026] NCBI Gene:5332 PLCB4 [ReferenceDNASequence:12116337] OMIM:600810 PLCB4
referenceTranscript	[ReferenceRNASequence:12613652] RefSeq:NM_182797.3 PLCB4 [ReferenceRNASequence:12613654] RefSeq:NM_001172646.2 PLCB4 [ReferenceRNASequence:12613649] RefSeq:NM_001377134.2 PLCB4 [ReferenceRNASequence:12613650] RefSeq:NM_001377135.1 PLCB4 [ReferenceRNASequence:12613648] RefSeq:XM_047440202.1 PLCB4 [ReferenceRNASequence:12613653] RefSeq:NM_000933.3 PLCB4 [ReferenceRNASequence:12613651] RefSeq:NM_001377136.1 PLCB4
schemaClass	ReferenceGeneProduct
secondaryIdentifier	PLCB4_HUMAN B7ZLK6 E2QRH8 Q17R56 Q5JYS8 Q5JYS9 Q5JYT0 Q5JYT3 Q5JYT4 Q9BQW5 Q9BQW6 Q9BQW8 Q9UJQ2
sequenceLength	1175
species	[Species:48887] Homo sapiens
stId	uniprot:Q15147
url	http://purl.uniprot.org/uniprot/Q15147

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(referenceEntity)

[EntityWithAccessionedSequence:R-HSA-61697] PLCB4 [cytosol]