phosphatidylinositol-4-phosphate 5-kinase type 1 gamma

Summary
Gene Symbol
  • PIP5K1C
Aliases
  • KIAA0589
  • LCCS3
  • PIP5Kgamma
Organism
Homo sapiens (human)
External Links
NCBI Gene
23396
HGNC
8996
KEGG Gene ID
hsa:23396
PubChem
23396
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • ATP-binding
  • Acetylation
  • Alternative splicing
  • Cell adhesion
  • Cell junction
  • Cell membrane
  • Cell projection
  • Chemotaxis
  • Cytoplasm
  • Disease variant
  • Endocytosis
  • Exocytosis
  • Kinase
  • Lipid metabolism
  • Methylation
  • Nucleus
  • Phagocytosis
  • Phosphoprotein
  • Reference proteome
Proteins
Displaying 1 entry
UniProt Protein Name
O60331
  • Type I phosphatidylinositol 4-phosphate 5-kinase gamma
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
KEGG BRITE Database
Orthology
K00889
Name
1-phosphatidylinositol-4-phosphate 5-kinase [EC:2.7.1.68]
References
Disease
Disease Ontology
Displaying all 6 entries
DO ID Disease Name Source
DOID:0060653 lethal congenital contracture syndrome 3
DOID:11260 rabies
DOID:1612 breast cancer
DOID:162 cancer
DOID:3008 invasive ductal carcinoma
DOID:3459 breast carcinoma
The Human Phenotype Ontology
Displaying all 6 entries
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0002093 Respiratory insufficiency
HP:0002804 Arthrogryposis multiplex congenita
HP:0002828 Multiple joint contractures
HP:0003202 Skeletal muscle atrophy
HP:0003811 Neonatal death
Displaying 1 entry
Disease ID Disease Name
OMIM:611369
  • lethal congenital contracture syndrome 3
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP001244
Gene Name
phosphatidylinositol-4-phosphate 5-kinase, type I, gamma

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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