1. Gene
  2. PLCB1 - phospholipase C beta 1 Gene

PLCB1 - phospholipase C beta 1 Gene

Homo sapiens

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

Gene ID: 23236 | Gene type: protein coding

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

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