PITPNA Gene Summary [Human]
This gene encodes a member of a family of lipid-binding proteins that transfer molecules of phosphatidylinositol or phosphatidylcholine between membrane surfaces. The protein is implicated in phospholipase C signaling and in the production of phosphatidylinositol 3,4,5-trisphosphate (PIP3) by phosphoinositide-3-kinase.[provided by RefSeq, Sep 2009]
Details
| Type | Protein Coding |
| Official Symbol | PITPNA |
| Official Name | phosphatidylinositol transfer protein alpha [Source:HGNC Symbol;Acc:HGNC:9001] |
| Ensembl ID | ENSG00000174238 |
| Bio databases IDs | |
| Aliases | phosphatidylinositol transfer protein alpha |
| Synonyms | HEL-S-36, phosphatidylinositol transfer protein alpha, phosphatidylinositol transfer protein, alpha, phosphatidylinositol transfer protein α, phosphatidylinositol transfer protein, α, PITP, PI-TPalpha, PITPN, PI-TP α, Pltp, vb, VIB1A, vibrator |
| 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 PITPNA often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SRPBCC domain
- phospholipid binding
- PKC phosphorylation site
- lipid binding
- phospholipid transporter
- fatty acid binding
- phosphatidylinositol transporter
- protein binding
- phosphatidylinositol binding
- lipid transporter
- binding protein
- phosphatidylcholine transporter
- acyl-CoA binding
- Phosphatidylinositol transfer protein
- transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- intestinal steatosis
- Anderson disease
- growth failure
- hepatic steatosis
- neurodegeneration
- seizures
- wasting
- hypoglycemia
- microvesicular hepatic steatosis
- demyelination
role in cell
- apoptosis
- proliferation
- number
- quantity
- abnormal morphology
- formation
- exocytosis
- formation in
- development
- insulin secretion in
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
- myelin enriched fraction
- cellular membrane
- Nucleus
- cytosol
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PITPNA gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- axonogenesis
- lipid metabolic process
- phospholipid transport
- visual perception
Cellular Component
Where in the cell the gene product is active
- nucleus
- extracellular vesicular exosome
- cytoplasm
- cytosol
Molecular Function
What the gene product does at the molecular level
- protein binding
- phosphatidylinositol binding
- lipid binding
- phosphatidylcholine binding
- phosphatidylinositol transporter activity
- phosphatidylcholine transporter activity