PLCB1 - phospholipase C beta 1 Gene

Also Known as DEE12; PLC-I; EIEE12; PI-PLC; PLC154; PLCB1A; PLCB1B; PLC-154; PLC-beta-1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23236

About PLCB1

Cytogenetic location: 20p12.3 Genomic coordinates (GRCh38): 20:8,132,266-8,884,900 (from NCBI)

This gene has 34 transcripts (splice variants), 311 orthologues, 14 paralogues and is associated with 4 phenotypes. Broad expression in brain (RPKM 18.8), salivary gland (RPKM 3.8) and 17 other tissues.

Summary

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]

PLCB1 Products (2)

mRNA Protein Name
NM_015192.4 NP_056007.1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 isoform a
NM_182734.3 NP_877398.1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 isoform b

PLCB1 Protein Structure

EF-hand_like

EF-hand_like: Phosphoinositide-specific phospholipase C, efhand-like (224 - 314)

PI-PLC-X

PI-PLC-X: Phosphatidylinositol-specific phospholipase C, X domain (318 - 468)

PI-PLC-Y

PI-PLC-Y: Phosphatidylinositol-specific phospholipase C, Y domain (539 - 656)

C2

C2: C2 domain (678 - 754)

PLC-beta_C

PLC-beta_C: PLC-beta C terminal (998 - 1172)

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  • 1216 a.a.
Protein Preferred Names Protein Names

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

  • 1-phosphatidyl-D-myo-inositol-4,5-bisphosphate

PLCB1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
PLCB1 Q9NQ66 CTBP1 Homo sapiens Q13363-2 25416956
Intra
PLCB1 Q9NQ66 TFCP2 Homo sapiens Q12800 25416956
Intra
PLCB1 Q9NQ66 TFCP2 Homo sapiens Q12800 25416956
Intra
PLCB1 Q9NQ66 CTBP2 Homo sapiens P56545 25416956
Intra
PLCB1 Q9NQ66 CEP76 Homo sapiens Q8TAP6 25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

PLCB1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P810797 Phospholipase C beta 1 Antibody (YA10040) WB, IHC-P Human, Mouse, Rat

Related Diseases

Diseases Alias
Developmental And Epileptic Encephalopathy 12
  • Epileptic Encephalopathy, Early Infantile, 12

  • DEE12

  • Eiee12

  • Early Infantile Epileptic Encephalopathy 12

  • Developmental And Epileptic Encephalopathy, 12

  • Encephalopathy, Epileptic, Early Infantile, Type 12

Developmental And Epileptic Encephalopathy 14
  • Malignant Migrating Partial Seizures Of Infancy

  • Eiee14

  • Epilepsy Of Infancy With Migrating Focal Seizures

  • Mmpsi

  • DEE14

  • Epileptic Encephalopathy, Early Infantile, 14

  • Early Infantile Epileptic Encephalopathy 14

  • Malignant Migrating Partial Epilepsy Of Infancy

  • Migrating Partial Epilepsy Of Infancy

  • Migrating Partial Seizures Of Infancy

  • Mmpei

  • Mpei

  • Mpsi

  • Malignant Migrating Focal Seizures Of Infancy

  • Migrating Partial Seizures In Infancy

  • Developmental And Epileptic Encephalopathy, 14

  • Encephalopathy, Epileptic, Early Infantile, Type 14

Benign Epilepsy With Centrotemporal Spikes
  • Rolandic Epilepsy

  • Benign Rolandic Epilepsy

  • Epilepsy, Rolandic

  • Bcects

  • Benign Childhood Epilepsy With Centrotemporal Spike

  • Sylvan Seizures

  • Becrs

  • Bects

  • Bre

  • Benign Epilepsy Of Childhood With Centrotemporal Spikes

  • Benign Familial Epilepsy Of Childhood With Rolandic Spikes

  • Centrotemporal Epilepsy

West Syndrome
  • Infantile Spasms

  • Infantile Spasms Syndrome

  • Infantile Spasm

  • X-Linked Infantile Spasm Syndrome

  • X-Linked Infantile Spasms

  • Epileptic Encephalopathy, Early Infantile, 1

  • Is

  • Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg

  • West'S Syndrome

  • Spasms, Infantile

  • Is -[Infantile Spasm]

  • Salaam Spasm

  • Salaam Tic

Cholera
  • Vibrio Cholerae Infection

  • Cholera - Vibrio Cholerae

  • Cholera Due To Vibrio Cholerae

  • Vibrio Cholerae

  • Cholera Syndrome

  • Asiatic Cholera

  • Epidemic Cholera

Erythroleukemia
Developmental And Epileptic Encephalopathy
  • Encephalopathy, Developmental And Epileptic

Tangier Disease
  • Analphalipoproteinemia

  • High Density Lipoprotein Deficiency, Tangier Type

  • TGD

  • High Density Lipoprotein Deficiency, Type 1

  • Hdldt1

  • Familial High Density Lipoprotein Deficiency

  • A-Alphalipoprotein Neuropathy

  • Alpha High Density Lipoprotein Deficiency Disease

  • Cholesterol Thesaurismosis

  • Familial High Density Lipoprotein Deficiency Disease

  • Hdl Lipoprotein Deficiency Disease

  • Tangier Disease Neuropathy

  • Familial Alpha-Lipoprotein Deficiency

  • Familial High-Density Lipoprotein Deficiency 1

  • Primary Hypoalphalipoproteinemia 1

  • Analphalipo-Proteinemia

  • Familial Hypoalphalipo-Proteinemia

  • Familial Hypoalphalipoproteinemia

  • Lipoprotein Deficiency Disease, Hdl, Familial

  • Tangier Hereditary Neuropathy

  • Atp-Binding Cassette Transporter A1 Deficiency

  • Hdld1

  • High Density Lipoprotein Deficiency 1

  • Tangier Disease, Variant

  • Hypoalphalipoproteinemia, Familial

  • Familial Hdl Deficiency

Early Infantile Epileptic Encephalopathy
  • Early Infantile Epileptic Encephalopathy With Burst-Suppression

  • Early Infantile Epileptic Encephalopathy With Suppression Bursts

  • Eiee

  • Early Infantile Epileptic Encephalopathy With Suppression-Bursts

  • Ohtahara Syndrome

  • Encephalopathy, Epileptic, Early Infantile

Schizophrenia
  • SCZD

  • Schizophrenia With Or Without An Affective Disorder

  • Schizophrenia 12

  • Schizophrenia, Susceptibility To

  • Schizophrenia-1

  • Dementia Praecox

  • Schizophrenia 1

Joubert Syndrome 1
  • Joubert Syndrome

  • Jbts

  • Cerebellooculorenal Syndrome 1

  • JBTS1

  • Joubert-Boltshauser Syndrome

  • Cerebelloparenchymal Disorder Iv

  • Cpd4

  • Cors1

  • Joubert Syndrome And Related Disorders

  • Jsrd

  • Familial Aplasia Of The Vermis

  • Joubert Syndrome Related Disorders

  • Js

  • Cerebellar Vermis Agenesis

  • Cerebelloparenchymal Disorder 4

  • Agenesis Of Cerebellar Vermis

  • Cerebello-Oculo-Renal Syndrome

  • Cors

  • Joubert-Bolthauser Syndrome

  • Cpd Iv

  • Classic Joubert Syndrome

  • Joubert Syndrome Type A

  • Pure Joubert Syndrome

  • Cerebello-Oculo-Renal Syndrome 1

  • Joubert Syndrome-1

  • Joubert Syndrome, Type 1

  • Joubert'S Syndrome

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus PLCB1 RGD RGD:3344
Mus musculus PLCB1 MGD MGI:97613
Canis familiaris PLCB1 VGNC VGNC:44644
Macaca mulatta PLCB1 VGNC VGNC:76033
Bos taurus PLCB1 VGNC VGNC:32980
Felis catus PLCB1 VGNC VGNC:64208