Entity Details

Primary name PIP5K1C
Entity type gene
Source Source Link

Details

PrimaryID23396
RefseqGeneNG_012161
SymbolPIP5K1C
Namephosphatidylinositol-4-phosphate 5-kinase type 1 gamma
Chromosome19
Location19p13.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-02-20
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsPI51C_HUMAN

GO terms

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GOName
GO:0001891 phagocytic cup
GO:0001931 uropod
GO:0005524 ATP binding
GO:0005654 nucleoplasm
GO:0005829 cytosol
GO:0005912 adherens junction
GO:0005925 focal adhesion
GO:0006661 phosphatidylinositol biosynthetic process
GO:0006909 phagocytosis
GO:0010008 endosome membrane
GO:0014066 regulation of phosphatidylinositol 3-kinase signaling
GO:0016079 synaptic vesicle exocytosis
GO:0016308 1-phosphatidylinositol-4-phosphate 5-kinase activity
GO:0030036 actin cytoskeleton organization
GO:0030593 neutrophil chemotaxis
GO:0032587 ruffle membrane
GO:0034333 adherens junction assembly
GO:0048488 synaptic vesicle endocytosis
GO:0061024 membrane organization
GO:0072583 clathrin-dependent endocytosis
GO:0098609 cell-cell adhesion
GO:0098793 presynapse

Diseases

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Disease IDSourceNameDescription
611369 OMIMLethal congenital contracture syndrome 3 (LCCS3)A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy, and congenital non-progressive joint contractures (arthrogryposis). The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. LCCS3 patients present at birth with severe multiple joint contractures and severe muscle wasting and atrophy, mainly in the legs. Death occurs minutes to hours after birth due to respiratory insufficiency. The phenotype can be distinguished from that of LCCS1 by the absence of hydrops, fractures and multiple pterygia, and from LCCS2 by the absence of neurogenic bladder defect. The disease is caused by variants affecting the gene represented in this entry.