PIP4K2A Gene Summary [Human]
Phosphatidylinositol-5,4-bisphosphate, the precursor to second messengers of the phosphoinositide signal transduction pathways, is thought to be involved in the regulation of secretion, cell proliferation, differentiation, and motility. The protein encoded by this gene is one of a family of enzymes capable of catalyzing the phosphorylation of phosphatidylinositol-5-phosphate on the fourth hydroxyl of the myo-inositol ring to form phosphatidylinositol-5,4-bisphosphate. The amino acid sequence of this enzyme does not show homology to other kinases, but the recombinant protein does exhibit kinase activity. This gene is a member of the phosphatidylinositol-5-phosphate 4-kinase family. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | PIP4K2A |
| Official Name | phosphatidylinositol-5-phosphate 4-kinase type 2 alpha [Source:HGNC Symbol;Acc:HGNC:8997] |
| Ensembl ID | ENSG00000150867 |
| Bio databases IDs | |
| Aliases | phosphatidylinositol-5-phosphate 4-kinase type 2 alpha |
| Synonyms | 1-Phosphatidylinositol-4-Phosphate 5-Kinase Isoform C, AI314891, LOC100363127, LOC100909950, phosphatidylinositol-5-phosphate 4-kinase type 2 alpha, phosphatidylinositol-5-phosphate 4-kinase type 2 α, phosphatidylinositol-5-phosphate 4-kinase, type II, alpha, phosphatidylinositol-5-phosphate 4-kinase, type II, α, PI5P4KA, PIP4K Alpha, PIP4K α, PIP5K2A, PIP5KIIA, PIP5KII-alpha, PIP5KII-α, PIPK, PIPKII α |
| Species | Human, Homo sapiens |
| Orthologies |
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 in human PIP4K2A 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
- 1-phosphatidylinositol-5-phosphate 4-kinase
- protein homodimerization
- Phosphatidylinositol-4-phosphate 5-Kinase
- protein binding
- 1-phosphatidylinositol-4-phosphate 5-kinase
Pathways
Biological processes and signaling networks where the PIP4K2A gene in human 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.
disease
- renal cell cancer
- rheumatoid arthritis
- cleft lip
- acute lymphoblastic leukemia
- precursor B-cell acute lymphoblastic leukemia
- hypothyroidism
- myopia
- breast carcinoma
- renal cell carcinoma
- tinnitus
role in cell
- activation in
- proliferation
- growth
- upregulation in
- ploidy
- autophagy by
- assembly
- doubling time
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Nucleus
- Plasma Membrane
- lysosome
- cytosol
- nucleoplasm
- autophagic vacuoles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PIP4K2A gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of autophagy
- megakaryocyte development
- positive regulation of autophagic vacuole assembly
- phosphatidylinositol phosphorylation
- negative regulation of insulin receptor signaling pathway
- vesicle-mediated cholesterol transport
Cellular Component
Where in the cell the gene product is active
- cytosol
- photoreceptor inner segment
- plasma membrane
- autophagic vacuole
- lysosome
- photoreceptor outer segment
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- ATP binding
- protein homodimerization activity
- protein binding
- 1-phosphatidylinositol-4-phosphate 5-kinase activity
- 1-phosphatidylinositol-5-phosphate 4-kinase activity