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Aliases for PLCB1 Gene

Aliases for PLCB1 Gene

  • Phospholipase C, Beta 1 (Phosphoinositide-Specific) 2 3
  • Phospholipase C-I 3 4
  • EC 3.1.4.11 4 64
  • PLC-Beta-1 3 4
  • KIAA0581 4 6
  • PLC-154 3 4
  • EIEE12 3 6
  • PLCB1A 3 6
  • PLCB1B 3 6
  • PLC-I 3 4
  • 1-Phosphatidylinositol 4,5-Bisphosphate Phosphodiesterase Beta-1 3
  • 1-Phosphatidyl-D-Myo-Inositol-4,5-Bisphosphate 3
  • Monophosphatidylinositol Phosphodiesterase 3
  • Phosphoinositide Phospholipase C-Beta-1 4
  • Triphosphoinositide Phosphodiesterase 3
  • Inositoltrisphosphohydrolase 3
  • Phospholipase C-Beta-1 4
  • Phosphoinositidase C 3
  • PI-PLC 3
  • PLC154 3

External Ids for PLCB1 Gene

Summaries for PLCB1 Gene

Entrez Gene Summary for PLCB1 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 of many extracellular signals. This gene is activated by two G-protein alpha subunits, alpha-q and alpha-11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for PLCB1 Gene

PLCB1 (Phospholipase C, Beta 1 (Phosphoinositide-Specific)) is a Protein Coding gene. Diseases associated with PLCB1 include epileptic encephalopathy, early infantile, 12 and ohtahara syndrome. Among its related pathways are GPCR Pathway and Ras signaling pathway. GO annotations related to this gene include calcium ion binding and signal transducer activity. An important paralog of this gene is PLCH1.

UniProtKB/Swiss-Prot for PLCB1 Gene

  • The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes

Tocris Summary for PLCB1 Gene

  • Phospholipases are a group of enzymes that hydrolyze phospholipids into fatty acids and other lipophilic molecules. PLC is subdivided into beta, gamma, delta, epsilon, zeta and eta subtypes, which catalyze the hydrolysis of phosphatidylinositol 4,5-bisphosphate (PIP2) to inositol 1,4,5-trisphosphate (IP3) and 1,2-diacylglycerol (DAG). IP3 and DAG both have important second messenger functions. PLC-beta is primarily activated by Gq/11 proteins and PLC-gamma is activated by phosphorylation in response to a variety of growth factor and immune system signals. Phospholipases are ubiquitously expressed and have diverse biological functions including roles in inflammation, cell growth, signaling and death and maintenance of membrane phospholipids.

Gene Wiki entry for PLCB1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PLCB1 Gene

Genomics for PLCB1 Gene

Genomic Location for PLCB1 Gene

Start:
8,132,177 bp from pter
End:
8,968,356 bp from pter
Size:
836,180 bases
Orientation:
Plus strand

Genomic View for PLCB1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PLCB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLCB1 Gene

Regulatory Elements for PLCB1 Gene

Proteins for PLCB1 Gene

  • Protein details for PLCB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NQ66-PLCB1_HUMAN
    Recommended name:
    1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1
    Protein Accession:
    Q9NQ66
    Secondary Accessions:
    • D3DW12
    • D3DW13
    • O60325
    • Q17RQ6
    • Q5TFF7
    • Q5TGC9
    • Q8IV93
    • Q9BQW2
    • Q9H4H2
    • Q9H8H5
    • Q9NQ65
    • Q9NQH9
    • Q9NTH4
    • Q9UJP6
    • Q9UM26

    Protein attributes for PLCB1 Gene

    Size:
    1216 amino acids
    Molecular mass:
    138567 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    • Interacts with DGKQ.
    Miscellaneous:
    • The receptor-mediated activation of PLC-beta-1 is mediated by two G-protein alpha subunits, alpha-Q and alpha-11
    SequenceCaution:
    • Sequence=BAA25507.3; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAB14641.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for PLCB1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PLCB1 Gene

Proteomics data for PLCB1 Gene at MOPED

Post-translational modifications for PLCB1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PLCB1 Gene

Domains for PLCB1 Gene

Gene Families for PLCB1 Gene

UniProtKB/Swiss-Prot:

PLCB1_HUMAN
Domain:
  • Contains 1 C2 domain.:
    • Q9NQ66
  • Contains 1 PI-PLC X-box domain.:
    • Q9NQ66
  • Contains 1 PI-PLC Y-box domain.:
    • Q9NQ66
genes like me logo Genes that share domains with PLCB1: view

Function for PLCB1 Gene

Molecular function for PLCB1 Gene

GENATLAS Biochemistry: phospholipase C,beta 1,phosphatidylinositol specific,involved in signal transduction
UniProtKB/Swiss-Prot CatalyticActivity: 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H(2)O = 1D-myo-inositol 1,4,5-trisphosphate + diacylglycerol
UniProtKB/Swiss-Prot Function: The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes

Enzyme Numbers (IUBMB) for PLCB1 Gene

Gene Ontology (GO) - Molecular Function for PLCB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004435 phosphatidylinositol phospholipase C activity NAS 11118617
GO:0004871 signal transducer activity IEA --
GO:0005096 GTPase activator activity IDA 1322796
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with PLCB1: view
genes like me logo Genes that share phenotypes with PLCB1: view

Animal Models for PLCB1 Gene

MGI Knock Outs for PLCB1:

miRNA for PLCB1 Gene

miRTarBase miRNAs that target PLCB1

No data available for Transcription Factor Targeting and HOMER Transcription for PLCB1 Gene

Localization for PLCB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLCB1 Gene

Nucleus membrane. Cytoplasm. Note=Colocalizes with the adrenergic receptors, ADREN1A and ADREN1B, at the nuclear membrane of cardiac myocytes. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PLCB1 Gene COMPARTMENTS Subcellular localization image for PLCB1 gene
Compartment Confidence
cytosol 4
nucleus 4
plasma membrane 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for PLCB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISS --
GO:0005634 nucleus NAS 10760467
GO:0005737 cytoplasm IDA 11118617
GO:0005829 cytosol TAS --
GO:0016020 membrane --
genes like me logo Genes that share ontologies with PLCB1: view

Pathways for PLCB1 Gene

genes like me logo Genes that share pathways with PLCB1: view

Gene Ontology (GO) - Biological Process for PLCB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle ISS --
GO:0006629 lipid metabolic process --
GO:0007165 signal transduction NAS 11118617
GO:0007213 G-protein coupled acetylcholine receptor signaling pathway ISS --
GO:0007215 glutamate receptor signaling pathway ISS --
genes like me logo Genes that share ontologies with PLCB1: view

Compounds for PLCB1 Gene

(5) Tocris Compounds for PLCB1 Gene

Compound Action Cas Number
D609 Selective PC-PLC inhibitor [83373-60-8]
Edelfosine Selective PI-PLC inhibitor, also PAF receptor agonist [77286-66-9]
FIPI Phospholipase D inhibitor [939055-18-2]
m-3M3FBS Phospholipase C activator [200933-14-8]
U 73343 Inactive analog of U 73122 (Cat. No. 1268) [142878-12-4]

(1226) HMDB Compounds for PLCB1 Gene

Compound Synonyms Cas Number PubMed IDs
1-Phosphatidyl-D-myo-inositol
  • 1-Phosphatidyl-1D-myo-inositol
Not Available
Calcium
  • Ca
7440-70-2
DG(14:0/14:0/0:0)
  • DAG(14:0/14:0)
Not Available
DG(14:0/14:1(9Z)/0:0)
  • DAG(14:0/14:1)
Not Available
DG(14:0/15:0/0:0)
  • Diacylglycerol(29:0)
Not Available

(49) Novoseek inferred chemical compound relationships for PLCB1 Gene

Compound -log(P) Hits PubMed IDs
pip2 79.1 14
pl-cs 78.5 3
inositol 1,4,5 trisphosphate 74.2 10
phosphoinositide 72.3 22
phosphatidylinositol 70.3 41
genes like me logo Genes that share compounds with PLCB1: view

Transcripts for PLCB1 Gene

Unigene Clusters for PLCB1 Gene

Phospholipase C, beta 1 (phosphoinositide-specific):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PLCB1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^
SP1: -
SP2: -
SP3:
SP4:

ExUns: 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33a · 33b ^ 34 ^ 35 ^ 36
SP1: -
SP2: - -
SP3:
SP4:

Relevant External Links for PLCB1 Gene

GeneLoc Exon Structure for
PLCB1
ECgene alternative splicing isoforms for
PLCB1

Expression for PLCB1 Gene

mRNA expression in normal human tissues for PLCB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PLCB1 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (5.7), Brain - Putamen (basal ganglia) (4.8), Brain - Caudate (basal ganglia) (4.7), and Brain - Anterior cingulate cortex (BA24) (4.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PLCB1 Gene

SOURCE GeneReport for Unigene cluster for PLCB1 Gene Hs.431173

genes like me logo Genes that share expressions with PLCB1: view

Orthologs for PLCB1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PLCB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PLCB1 36
  • 99.63 (n)
  • 100 (a)
PLCB1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PLCB1 36
  • 91.58 (n)
  • 97.45 (a)
PLCB1 37
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PLCB1 36
  • 93.36 (n)
  • 97.85 (a)
PLCB1 37
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Plcb1 36
  • 89.14 (n)
  • 97.37 (a)
Plcb1 16
Plcb1 37
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PLCB1 37
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PLCB1 37
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Plcb1 36
  • 89.45 (n)
  • 97.37 (a)
chicken
(Gallus gallus)
Aves PLCB1 36
  • 82.19 (n)
  • 92.06 (a)
PLCB1 37
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PLCB1 37
  • 86 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii PLCB1 (1 of 2) 37
  • 64 (a)
OneToMany
PLCB1 (2 of 2) 37
  • 72 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009115 36
  • 52.77 (n)
  • 51.2 (a)
fruit fly
(Drosophila melanogaster)
Insecta Plc21C 36
  • 56.68 (n)
  • 55.15 (a)
Plc21C 37
  • 37 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y75B12B.6 38
  • 28 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 46 (a)
OneToMany
Species with no ortholog for PLCB1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for PLCB1 Gene

ENSEMBL:
Gene Tree for PLCB1 (if available)
TreeFam:
Gene Tree for PLCB1 (if available)

Paralogs for PLCB1 Gene

Paralogs for PLCB1 Gene

Selected SIMAP similar genes for PLCB1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with PLCB1: view

Variants for PLCB1 Gene

Sequence variations from dbSNP and Humsavar for PLCB1 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type MAF
rs1855 -- 8,590,668(+) CATAG(A/G)CCCCT intron-variant
rs64989 -- 8,350,382(-) ggagc(C/T)tttat intron-variant
rs126943 -- 8,362,994(-) GGAAC(A/G)GAAAG intron-variant
rs151055 -- 8,383,715(-) caggc(C/T)tgact intron-variant
rs162219 -- 8,362,379(+) AATAT(A/G)TCTCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PLCB1 Gene

Variant ID Type Subtype PubMed ID
nsv912652 CNV Gain 21882294
esv2422203 CNV Duplication 17116639
dgv1304e1 CNV Complex 17122850
nsv912653 CNV Gain 21882294
nsv458863 CNV Gain 19166990
nsv521502 CNV Gain 19592680
nsv912654 CNV Gain 21882294
esv35097 CNV Gain 17911159
nsv3280 CNV Insertion 18451855
nsv3281 CNV Loss 18451855
nsv517649 CNV Loss 19592680
esv269700 CNV Insertion 20981092
nsv819177 CNV Loss 19587683
esv2722153 CNV Deletion 23290073
esv2722154 CNV Deletion 23290073
esv2674984 CNV Deletion 23128226
nsv828685 CNV Loss 20364138
dgv240n21 CNV Loss 19592680
esv2665461 CNV Deletion 23128226
nsv912655 CNV Loss 21882294
esv2660358 CNV Deletion 23128226
esv2722155 CNV Deletion 23290073
nsv521272 CNV Loss 19592680
nsv912656 CNV Gain 21882294
nsv3282 CNV Loss 18451855
esv2569373 CNV Deletion 19546169
nsv517930 CNV Loss 19592680
nsv912657 CNV Loss 21882294
esv2656531 CNV Deletion 23128226
esv23038 CNV Loss 19812545
esv2722156 CNV Deletion 23290073
esv2677223 CNV Deletion 23128226
esv270632 CNV Insertion 20981092
esv273145 CNV Insertion 20981092
esv2722157 CNV Deletion 23290073
esv2623512 CNV Deletion 19546169
esv2722158 CNV Deletion 23290073
nsv912658 CNV Loss 21882294
nsv524662 CNV Loss 19592680
nsv179513 CNV Loss 16902084
esv271491 CNV Insertion 20981092
esv270652 CNV Insertion 20981092
nsv179322 CNV Insertion 16902084
esv2722159 CNV Deletion 23290073
esv2295237 CNV Deletion 18987734
esv2742905 CNV Deletion 23290073
nsv178902 CNV Loss 16902084
esv1042376 CNV Deletion 17803354
nsv9782 CNV Loss 18304495
esv1209654 CNV Insertion 17803354
esv271597 CNV Insertion 20981092
esv273603 CNV Insertion 20981092
nsv833916 CNV Gain 17160897
nsv179314 CNV Insertion 16902084
nsv179312 CNV Loss 16902084
nsv179883 CNV Loss 16902084
esv271672 CNV Insertion 20981092
esv272373 CNV Insertion 20981092

Relevant External Links for PLCB1 Gene

HapMap Linkage Disequilibrium report
PLCB1
Human Gene Mutation Database (HGMD)
PLCB1

Disorders for PLCB1 Gene

(1) OMIM Diseases for PLCB1 Gene (607120)

UniProtKB/Swiss-Prot

PLCB1_HUMAN
  • Epileptic encephalopathy, early infantile, 12 (EIEE12) [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 mutations affecting the gene represented in this entry.

(9) Novoseek inferred disease relationships for PLCB1 Gene

Disease -log(P) Hits PubMed IDs
erythroleukemia 47.9 10
osteosarcoma 14.8 2
leukemia t-cell 11.2 1
tumors 1.33 1
cholera 0 3

Relevant External Links for PLCB1

Genetic Association Database (GAD)
PLCB1
Human Genome Epidemiology (HuGE) Navigator
PLCB1
genes like me logo Genes that share disorders with PLCB1: view

Publications for PLCB1 Gene

  1. Cloning and characterization of the human phosphoinositide-specific phospholipase C-beta 1 (PLCbeta1). (PMID: 11118617) Caricasole A. … Terstappen G.C. (Biochim. Biophys. Acta 2000) 2 3 4 23
  2. Identification and chromosomal localisation by fluorescence in situ hybridisation of human gene of phosphoinositide-specific phospholipase C beta 1. (PMID: 10760467) Peruzzi D. … Cocco L. (Biochim. Biophys. Acta 2000) 2 3 4 23
  3. A specific phospholipase C activity regulates phosphatidylinositol levels in lung surfactant of patients with acute respiratory distress syndrome. (PMID: 19491339) Spyridakis S. … Galanopoulou D. (Am. J. Respir. Cell Mol. Biol. 2010) 3 23
  4. Two waves of the nuclear phospholipase C activity in serum-stimulated HL-60 cells during G(1) phase of the cell cycle. (PMID: 17363325) Lukinovic-Skudar V. … Visnjic D. (Biochim. Biophys. Acta 2007) 3 23
  5. Nuclear phosphoinositide specific phospholipase C (PI-PLC)-beta 1: a central intermediary in nuclear lipid-dependent signal transduction. (PMID: 16136505) Martelli A.M. … Cocco L. (Histol. Histopathol. 2005) 3 23

Products for PLCB1 Gene

Sources for PLCB1 Gene

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