Homo sapiens Gene: PIP5K1C
Summary
InnateDB Gene IDBG-17648.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PIP5K1C
Gene Name phosphatidylinositol-4-phosphate 5-kinase, type I, gamma
Synonyms LCCS3; PIP5K-GAMMA; PIP5K1-gamma; PIP5Kgamma;
Species Homo sapiens
Ensembl Gene ENSG00000186111
Encoded Proteins
phosphatidylinositol-4-phosphate 5-kinase, type I, gamma
phosphatidylinositol-4-phosphate 5-kinase, type I, gamma
phosphatidylinositol-4-phosphate 5-kinase, type I, gamma
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This locus encodes a type I phosphatidylinositol 4-phosphate 5-kinase. The encoded protein catalyzes phosphorylation of phosphatidylinositol 4-phosphate, producing phosphatidylinositol 4,5-bisphosphate. This enzyme is found at synapses and has been found to play roles in endocytosis and cell migration. Mutations at this locus have been associated with lethal congenital contractural syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Sep 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 19:3630183-3700479
Strand Reverse strand
Band p13.3
Transcripts
ENST00000335312 ENSP00000335333
ENST00000539785 ENSP00000445992
ENST00000537021 ENSP00000444779
ENST00000592530
ENST00000587482
ENST00000589578 ENSP00000466363
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 17 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 17 [view]
Protein-Protein 17 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016307 phosphatidylinositol phosphate kinase activity
GO:0016308 1-phosphatidylinositol-4-phosphate 5-kinase activity
GO:1990147 talin binding
Biological Process
GO:0006644 phospholipid metabolic process
GO:0006661 phosphatidylinositol biosynthetic process
GO:0006909 phagocytosis
GO:0007016 cytoskeletal anchoring at plasma membrane
GO:0007409 axonogenesis
GO:0007411 axon guidance
GO:0016079 synaptic vesicle exocytosis
GO:0016337 single organismal cell-cell adhesion
GO:0030036 actin cytoskeleton organization
GO:0030593 neutrophil chemotaxis
GO:0034333 adherens junction assembly
GO:0044281 small molecule metabolic process
GO:0046488 phosphatidylinositol metabolic process
GO:0046854 phosphatidylinositol phosphorylation
GO:0048488 synaptic vesicle endocytosis
GO:0070527 platelet aggregation
GO:0072583 clathrin-mediated endocytosis
Cellular Component
GO:0001891 phagocytic cup
GO:0001931 uropod
GO:0005634 nucleus
GO:0005829 cytosol
GO:0005925 focal adhesion
GO:0012505 endomembrane system
GO:0032587 ruffle membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
BCR pathway
REACTOME
Developmental Biology pathway
Metabolism of lipids and lipoproteins pathway
Semaphorin interactions pathway
SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion pathway
Synthesis of PIPs at the plasma membrane pathway
Axon guidance pathway
PI Metabolism pathway
Phospholipid metabolism pathway
Metabolism pathway
KEGG
Inositol phosphate metabolism pathway
Phosphatidylinositol signaling system pathway
Endocytosis pathway
Focal adhesion pathway
Fc gamma R-mediated phagocytosis pathway
Regulation of actin cytoskeleton pathway
INOH
Inositol phosphate metabolism pathway
PID BIOCARTA
PID NCI
E-cadherin signaling in the nascent adherens junction
Nectin adhesion pathway
RAC1 signaling pathway
Stabilization and expansion of the E-cadherin adherens junction
Arf6 trafficking events
N-cadherin signaling events
Cross-References
SwissProt O60331
TrEMBL Q7LE22
UniProt Splice Variant
Entrez Gene 23396
UniGene Hs.282177
RefSeq NM_012398 NM_001195733 NM_001300849 XM_005259523
HUGO HGNC:8996
OMIM 606102
CCDS CCDS32872 CCDS56074 CCDS74257
HPRD 05834
IMGT
EMBL AB011161 AC004637 AC005542 AC093071 AK315912 FJ965536 FJ965537
GenPept AAC15471 AAC32904 ACS73483 ACS73484 BAA25515 BAH14283
RNA Seq Atlas 23396