phospholipase C beta 1

Summary
Gene Symbol
  • PLCB1
Aliases
  • KIAA0581
  • PLC-I
  • PLC154
  • phosphoinositide phospholipase C
Organism
Homo sapiens (human)
External Links
NCBI Gene
23236
HGNC
15917
KEGG Gene ID
hsa:23236
PubChem
23236
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Calcium
  • Cytoplasm
  • Epilepsy
  • Hydrolase
  • Lipid degradation
  • Membrane
  • Nucleus
  • Palmitate
  • Phosphoprotein
  • Reference proteome
  • Transducer
Proteins
Displaying 1 entry
UniProt Protein Name
Q9NQ66
  • PLC-154
  • Phosphoinositide phospholipase C-beta-1
  • Phospholipase C-I
  • Phospholipase C-beta-1
Gene Ontology (GO)
GO Hierarchy
KEGG BRITE Database
Orthology
K05858
Name
phosphatidylinositol phospholipase C, beta [EC:3.1.4.11]
References
Disease
Disease Ontology
Displaying entries 31 - 40 of 115 in total
DO ID Disease Name Source
DOID:10603 glucose intolerance
DOID:10652 Alzheimer's disease
DOID:114 heart disease
DOID:11716 prediabetes syndrome
DOID:11722 myotonic dystrophy type 1
DOID:11832 visual epilepsy
DOID:11847 coronary thrombosis
DOID:11870 Pick's disease
DOID:12140 Chagas disease
DOID:12236 primary biliary cholangitis
The Human Phenotype Ontology
Displaying entries 1 - 10 of 34 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000252 Microcephaly
HP:0000505 Visual impairment
HP:0000707 Abnormality of the nervous system
HP:0000826 Precocious puberty
HP:0001252 Hypotonia
HP:0001257 Spasticity
HP:0001273 Abnormal corpus callosum morphology
HP:0001276 Hypertonia
HP:0001336 Myoclonus
Displaying all 3 entries
Disease ID Disease Name
ORPHA:293181
  • malignant migrating partial seizures of infancy
OMIM:613722
  • developmental and epileptic encephalopathy, 12
ORPHA:3451
  • West syndrome
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP000936
Gene Name
phospholipase C, beta 1 (phosphoinositide-specific)

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024