PIP5K1C
PIP5K1C 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]
Details
| Type | Protein Coding |
| Official Symbol | PIP5K1C |
| Official Name | phosphatidylinositol-4-phosphate 5-kinase type 1 gamma [Source:HGNC Symbol;Acc:HGNC:8996] |
| Ensembl ID | ENSG00000186111 |
| Bio databases IDs | |
| Aliases | phosphatidylinositol-4-phosphate 5-kinase type 1 gamma |
| Synonyms | LCCS3,p90 PIP5KI γ,phosphatidylinositol-4-phosphate 5-kinase type 1 gamma,phosphatidylinositol-4-phosphate 5-kinase, type 1 gamma,phosphatidylinositol-4-phosphate 5-kinase type 1 γ,phosphatidylinositol-4-phosphate 5-kinase, type 1 γ,PIP5K1-gamma,PIP5K1-γ,PIP5K-GAMMA,Pip5kIgamma,PIP5K-γ,PIPKI gamma,PIPKI γ,PIPKI γ 90,type I PIPKINASE gamma,type I PIPKINASE γ |
| Species | Human, Homo sapiens |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- kinase
- Phosphatidylinositol phosphate kinase (PIPK) catalytic domain family
- lipid kinase
- alcohol group acceptor phosphotransferase
- Phosphatidylinositol-4-phosphate 5-Kinase
- protein binding
- 1-phosphatidylinositol-4-phosphate 5-kinase
Pathways
Biological processes and signaling networks where the PIP5K1C gene plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
binds
- CDK1
- PIP5K1B
- ARF6
- RABGGTB
- TLN1
- EZH2
- PIP5K1A
- RAC1
- AP2M1
- AP2 alpha
disease
- myelin oligodendrocyte glycoprotein induced experimental autoimmune encephalomyelitis
- Lethal congenital contractural syndrom israeli bedouin type b
- COVID-19
- osteopenia
- allergic rhinitis
- polyglandular autoimmune syndrome type 1
- thermal hyperalgesia
- hereditary disorder
- infection by HIV-1
- productive infection by HIV-1
regulated by
- CXCL12
- Ca2+
- Integrin
- FARP2
- CDK5
- NFE2L2
- PTPN6
- ARF6
- SRC
- talin
regulates
- AKT
- IFNG
- CD274
- ERRFI1
- RHOA
- LATS1
- Ca2+
- ITG
- TNFSF11
- phosphatidylinositol 4,5-bisphosphate
role in cell
- phosphorylation in
- degradation in
- expression in
- production in
- proliferation
- quantity
- integrity
- migration
- growth
- anchorage
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- glutaminergic synapse
- Cytoplasm
- cell surface
- intranuclear region
- cellular membrane
- focal adhesions
- Nucleus
- vacuole
- vesicles
- granules
- cytosol
- basolateral cell surfaces
- membrane ruffles
- uropod
- synaptic membrane
- endosomal membrane
- nucleoplasm
- nuclear speckles
- dendritic spines
- anchoring junction
- dendrites
- postsynaptic density
- cell-cell adherens junctions
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the PIP5K1C gene, providing context for its role in the cell.
BIOLOGICAL PROCESS
Functions and activities the gene product is involved in
- clathrin-mediated endocytosis
- membrane organization
- regulation of protein kinase B signaling cascade
- synaptic vesicle endocytosis
- phagocytosis
- neutrophil chemotaxis
- phosphatidylinositol phosphorylation
- synaptic vesicle exocytosis
- adherens junction assembly
- phosphatidylinositol biosynthetic process
- actin cytoskeleton organization
CELLULAR COMPONENT
Where in the cell the gene product is active
- adherens junction
- uropod
- focal adhesion
- ruffle membrane
- cytosol
- endosome membrane
- phagocytic cup
- plasma membrane
- nucleoplasm
MOLECULAR FUNCTION
What the gene product does at the molecular level
- phosphatidylinositol kinase activity
- ATP binding
- protein binding
- 1-phosphatidylinositol-4-phosphate 5-kinase activity