phospholipase C eta 1

Summary
Gene Symbol
  • PLCH1
Aliases
  • 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-1
  • DKFZp434C1372
  • KIAA1069
  • MGC117152
  • PLCeta1
Organism
Homo sapiens (human)
External Links
NCBI Gene
23007
HGNC
29185
KEGG Gene ID
hsa:23007
PubChem
23007
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Calcium
  • Cytoplasm
  • Disease variant
  • Holoprosencephaly
  • Hydrolase
  • Lipid degradation
  • Membrane
  • Metal-binding
  • Reference proteome
  • Repeat
  • Transducer
Proteins
Displaying 1 entry
UniProt Protein Name
Q4KWH8
  • Phosphoinositide phospholipase C-eta-1
  • Phospholipase C-eta-1
  • Phospholipase C-like protein 3
Gene Ontology (GO)
GO Hierarchy
KEGG BRITE Database
Orthology
K19006
Name
phosphatidylinositol phospholipase C, eta [EC:3.1.4.11]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 14 in total
DO ID Disease Name Source
DOID:0050865 tongue squamous cell carcinoma
DOID:0060250 idiopathic scoliosis
DOID:1324 lung cancer
DOID:1325 bronchus cancer
DOID:1749 squamous cell carcinoma
DOID:219 colon cancer
DOID:235 colonic benign neoplasm
DOID:3683 lung benign neoplasm
DOID:3904 bronchus carcinoma
DOID:3905 lung carcinoma
The Human Phenotype Ontology
Displaying entries 1 - 10 of 95 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000119 Abnormality of the genitourinary system
HP:0000161 Median cleft upper lip
HP:0000175 Cleft palate
HP:0000193 Bifid uvula
HP:0000218 High palate
HP:0000238 Hydrocephalus
HP:0000252 Microcephaly
HP:0000256 Macrocephaly
HP:0000369 Low-set ears
Displaying all 2 entries
Disease ID Disease Name
ORPHA:93925
  • alobar holoprosencephaly
OMIM:619895
  • holoprosencephaly 14
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP006662
Gene Name
phospholipase C, eta 1

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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