1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 - Homo sapiens

1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 (Homo sapiens)

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Subcellular Location Biology & Function Disease Associations Interactions Cross-References

General Information

Protein Information
Protein Name	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1
Accession Code	Q9NQ66
Gene	PLCB1
Organism	Homo sapiens \| Human (Taxonomy: 9606)
Part of Reference Proteome?	Yes
Sequence (Length: 1216)
MAGAQPGVHALQLKPVCVSDSLKKGTKFVKWDDDSTIVTPIILRTDPQGFFFYWTDQNKETELLDLSLVKDARCGRHAKAPKDPKLRELLDVGNIGRLEQRMITVVYGPDLVNISHLNLVAFQEEVAKEW TNEVFSLATNLLAQNMSRDAFLEKAYTKLKLQVTPEGRIPLKNIYRLFSADRKRVETALEACSLPSSRNDSIPQEDFTPEVYRVFLNNLCPRPEIDNIFSEFGAKSKPYLTVDQMMDFINLKQRDPRLNE ILYPPLKQEQVQVLIEKYEPNNSLARKGQISVDGFMRYLSGEENGVVSPEKLDLNEDMSQPLSHYFINSSHNTYLTAGQLAGNSSVEMYRQVLLSGCRCVELDCWKGRTAEEEPVITHGFTMTTEISFKE VIEAIAECAFKTSPFPILLSFENHVDSPKQQAKMAEYCRLIFGDALLMEPLEKYPLESGVPLPSPMDLMYKILVKNKKKSHKSSEGSGKKKLSEQASNTYSDSSSMFEPSSPGAGEADTESDDDDDDDDC KKSSMDEGTAGSEAMATEEMSNLVNYIQPVKFESFEISKKRNKSFEMSSFVETKGLEQLTKSPVEFVEYNKMQLSRIYPKGTRVDSSNYMPQLFWNAGCQMVALNFQTMDLAMQINMGMYEYNGKSGYRL KPEFMRRPDKHFDPFTEGIVDGIVANTLSVKIISGQFLSDKKVGTYVEVDMFGLPVDTRRKAFKTKTSQGNAVNPVWEEEPIVFKKVVLPTLACLRIAVYEEGGKFIGHRILPVQAIRPGYHYICLRNER NQPLTLPAVFVYIEVKDYVPDTYADVIEALSNPIRYVNLMEQRAKQLAALTLEDEEEVKKEADPGETPSEAPSEARTTPAENGVNHTTTLTPKPPSQALHSQPAPGSVKAPAKTEDLIQSVLTEVEAQTI EELKQQKSFVKLQKKHYKEMKDLVKRHHKKTTDLIKEHTTKYNEIQNDYLRRRAALEKSAKKDSKKKSEPSSPDHGSSTIEQDLAALDAEMTQKLIDLKDKQQQQLLNLRQEQYYSEKYQKREHIKLLIQ KLTDVAEECQNNQLKKLKEICEKEKKELKKKMDKKRQEKITEAKSKDKSQMEEEKTEMIRSYIQEVVQYIKRLEEAQSKRQEKLVEKHKEIRQQILDEKPKLQVELEQEYQDKFKRLPLEILEFVQEAMK GKISEDSNHGSAPLSLSSDPGKVNHKTPSSEELGGDIPGKEFDTPL

Subcellular Location

Description
Nucleus membrane {By SimilarityUniProtKB:Q9Z1B3}. Cytoplasm {By SimilarityUniProtKB:P10687}. Note=Colocalizes with the adrenergic receptors, ADREN1A and ADREN1B, at the nuclear membrane of cardiac myocytes. {By SimilarityUniProtKB:Q9Z1B3}.
Position in the Nuclear Envelope
Location	Location ID	Description
Nuclear Envelope	SL-0178	The nuclear envelope is a membrane system which surrounds the nucleoplasm of eukaryotic cells. It is composed of the nuclear lamina, nuclear pore complexes and two nuclear membranes. The space between the two membranes is called the nuclear intermembrane space.
Nuclear Membrane	SL-0182	The membrane surrounding the nucleus. This term is used when it is not known if the protein is found in or associated with the inner or outer nuclear membrane.
Membrane Topology
Topology	Source	Annotation Type
Lipid-Anchored	UniProt	By Similarity {ECO:0000250\|UniProtKB:Q9Z1B3}
Assigned Ontology terms

Cellular Component	Chromatin (GO:0000785) Cytoplasm (GO:0005737) Cytosol (GO:0005829) Extracellular Exosome (GO:0070062) GABA-Ergic Synapse (GO:0098982) Glutamatergic Synapse (GO:0098978) Nuclear Membrane (GO:0031965) Nuclear Speck (GO:0016607) Nucleus (GO:0005634) Postsynapse (GO:0098794) Protein-Containing Complex (GO:0032991)

Biology & Function

Description
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. {By SimilarityUniProtKB:Q9Z1B3, Experimental EvidencePubMed:9188725}.
Assigned Ontology terms

Biological Process	Activation Of Meiosis Involved In Egg Activation (GO:0060466) Cellular Response To Fluoride (GO:1902618) Cellular Response To Glyceraldehyde (GO:1905631) Cellular Response To Ionomycin (GO:1904637) Cellular Response To Vasopressin (GO:1904117) Cerebral Cortex Development (GO:0021987) Fat Cell Differentiation (GO:0045444) G Protein-Coupled Acetylcholine Receptor Signaling Pathway (GO:0007213) G Protein-Coupled Receptor Signaling Pathway (GO:0007186) G2/M Transition Of Mitotic Cell Cycle (GO:0000086) Glutamate Receptor Signaling Pathway (GO:0007215) Inositol Trisphosphate Metabolic Process (GO:0032957) Insulin-Like Growth Factor Receptor Signaling Pathway (GO:0048009) Interleukin-1-Mediated Signaling Pathway (GO:0070498) Interleukin-12-Mediated Signaling Pathway (GO:0035722) Interleukin-15-Mediated Signaling Pathway (GO:0035723) Learning (GO:0007612) Memory (GO:0007613) Negative Regulation Of DNA-Templated Transcription (GO:0045892) Negative Regulation Of Monocyte Extravasation (GO:2000438) Phosphatidylinositol Catabolic Process (GO:0031161) Phosphatidylinositol Metabolic Process (GO:0046488) Phosphatidylinositol-Mediated Signaling (GO:0048015) Positive Regulation Of Acrosome Reaction (GO:2000344) Positive Regulation Of CD24 Production (GO:2000560) Positive Regulation Of Developmental Growth (GO:0048639) Positive Regulation Of DNA-Templated Transcription (GO:0045893) Positive Regulation Of Embryonic Development (GO:0040019) Positive Regulation Of G1/S Transition Of Mitotic Cell Cycle (GO:1900087) Positive Regulation Of Interleukin-12 Production (GO:0032735) Positive Regulation Of JNK Cascade (GO:0046330) Positive Regulation Of Myoblast Differentiation (GO:0045663) Postsynaptic Modulation Of Chemical Synaptic Transmission (GO:0099170) Regulation Of Establishment Of Endothelial Barrier (GO:1903140) Regulation Of Fertilization (GO:0080154) Regulation Of G Protein-Coupled Receptor Signaling Pathway (GO:0008277) Regulation Of Retrograde Trans-Synaptic Signaling By Endocanabinoid (GO:0099178) Signal Transduction (GO:0007165)
Molecular Function	Calcium Ion Binding (GO:0005509) Calmodulin Binding (GO:0005516) Enzyme Binding (GO:0019899) GTPase Activator Activity (GO:0005096) Identical Protein Binding (GO:0042802) Lamin Binding (GO:0005521) Phosphatidylinositol Phospholipase C Activity (GO:0004435) Phosphatidylinositol-4,5-Bisphosphate Binding (GO:0005546) Phospholipase C Activity (GO:0004629)

Disease associations

Description
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. {Experimental EvidencePubMed:20833646}. Note=The disease is caused by variants affecting the gene represented in this entry.
Database Associations
OMIM	607120 613722
DisGeNET	23236

Protein-Protein Interactions

Interactions with Nuclear Envelope proteins (1 interactors)

Partner (NucEnvDB)		IntAct	Confidence score
P01112	GTPase HRas, N-terminally processed	EBI-27045317	0.27
Interactions with other proteins (16 interactors)

Partner (UniProt)		IntAct	Confidence score
Q01082	Spectrin beta chain, non-erythrocytic 1 (Beta-II spectrin) (Fodrin beta chain) (Spectrin, non-erythroid beta chain 1)	EBI-3447119	0.00
P56545	C-terminal-binding protein 2 (CtBP2)	EBI-10311798	0.56
Q12800	Alpha-globin transcription factor CP2 (SAA3 enhancer factor) (Transcription factor LSF)	EBI-10311808	0.56
Q13363	C-terminal-binding protein 1 (CtBP1) (EC 1.1.1.-)	EBI-10311818	0.56
Q8TAP6	Centrosomal protein of 76 kDa (Cep76)	EBI-10311838	0.56
Q7KYR7	Butyrophilin subfamily 2 member A1	EBI-21541130	0.35
P43115	Prostaglandin E2 receptor EP3 subtype (PGE receptor EP3 subtype) (PGE2 receptor EP3 subtype) (PGE2-R) (Prostanoid EP3 receptor)	EBI-21607127	0.35
Q6ZN54	Differentially expressed in FDCP 8 homolog (DEF-8)	EBI-21689078	0.35
P11279	Lysosome-associated membrane glycoprotein 1 (LAMP-1) (Lysosome-associated membrane protein 1) (CD107 antigen-like family member A) (CD antigen CD107a)	EBI-16794808	0.27
P05067	Amyloid-beta precursor protein (APP) (ABPP) (APPI) (Alzheimer disease amyloid A4 protein homolog) (Alzheimer disease amyloid protein) (Amyloid precursor protein) (Amyloid-beta (A4) precursor protein) (Amyloid-beta A4 protein) (Cerebral vascular amyloid peptide) (CVAP) (PreA4) (Protease nexin-II) (PN-II) [Cleaved into: N-APP; Soluble APP-alpha (S-APP-alpha); Soluble APP-beta (S-APP-beta); C99 (Beta-secretase C-terminal fragment) (Beta-CTF); Amyloid-beta protein 42 (Abeta42) (Beta-APP42); Amyloid-beta protein 40 (Abeta40) (Beta-APP40); C83 (Alpha-secretase C-terminal fragment) (Alpha-CTF); P3(42); P3(40); C80; Gamma-secretase C-terminal fragment 59 (Amyloid intracellular domain 59) (AICD-59) (AID(59)) (Gamma-CTF(59)); Gamma-secretase C-terminal fragment 57 (Amyloid intracellular domain 57) (AICD-57) (AID(57)) (Gamma-CTF(57)); Gamma-secretase C-terminal fragment 50 (Amyloid intracellular domain 50) (AICD-50) (AID(50)) (Gamma-CTF(50)); C31]	EBI-20821761	0.35
Q99623	Prohibitin-2 (B-cell receptor-associated protein BAP37) (D-prohibitin) (Repressor of estrogen receptor activity)	EBI-20901888	0.40
Q02539	Histone H1.1 (Histone H1a)	EBI-20928184	0.40
P04156	Major prion protein (PrP) (ASCR) (PrP27-30) (PrP33-35C) (CD antigen CD230)	EBI-21014654	0.35
Q969F8	KiSS-1 receptor (KiSS-1R) (G-protein coupled receptor 54) (G-protein coupled receptor OT7T175) (hOT7T175) (Hypogonadotropin-1) (Kisspeptins receptor) (Metastin receptor)	EBI-21282024	0.40
P01116	GTPase KRas (EC 3.6.5.2) (K-Ras 2) (Ki-Ras) (c-K-ras) (c-Ki-ras) [Cleaved into: GTPase KRas, N-terminally processed]	EBI-27041844	0.27
P01111	GTPase NRas (EC 3.6.5.2) (Transforming protein N-Ras)	EBI-27042293	0.27

Cross-References

Database	Links
UNIPROT	Q9NQ66 D3DW12 D3DW13 O60325 Q17RQ6 Q5TFF7 Q5TGC9 Q8IV93 Q9BQW2 Q9H4H2 Q9H8H5 Q9NQ65 Q9NQH9 Q9NTH4 Q9UJP6 Q9UM26
Pfam	PF06631 PF09279 PF17787 PF00388 PF00387 PF08703
PROSITE	PS50004 PS50007 PS50008
OMIM	607120 613722
DisGeNET	23236

1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 (Homo sapiens)

General Information

Protein Information

Subcellular Location

Description Show

Position in the Nuclear Envelope

Membrane Topology

Assigned Ontology terms

Biology & Function

Description Hide

Assigned Ontology terms

Disease associations

Description

Database Associations

Protein-Protein Interactions

Interactions with Nuclear Envelope proteins (1 interactors)

Interactions with other proteins (16 interactors)

Cross-References

Database

Links

Description

Description