PLVAP Gene Summary [Human]
Predicted to enable identical protein binding activity. Involved in MAPK cascade; positive regulation of cellular extravasation; and tumor necrosis factor-mediated signaling pathway. Located in cell surface. Colocalizes with caveola. Implicated in congenital diarrhea. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | PLVAP |
| Official Name | plasmalemma vesicle associated protein [Source:HGNC Symbol;Acc:HGNC:13635] |
| Ensembl ID | ENSG00000130300 |
| Bio databases IDs | |
| Aliases | plasmalemma vesicle associated protein, fenestrated-endothelial linked structure protein; PV-1 protein |
| Synonyms | DIAR10, FELS, gp68, MECA32, PAL-E, plasmalemma vesicle associated protein, PV-1 |
| 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 PLVAP often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein binding
- identical protein binding
- PV-1 protein (PLVAP)
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- liver cancer
- hypoalbuminemia
- xanthomatosis
- hyperlipoproteinemia type I
- high hyperdiploid acute lymphoblastic leukemia
- diarrhea type 10
- growth failure
- hepatitis B virus-related hepatocellular carcinoma
- hypocalcemia
regulates
- cholesterol
- triacylglycerol
- lipid
- HDL/cholesterol
role in cell
- abnormal morphology
- extravasation
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
- detergent resistant lipid raft fraction
- cell surface
- cellular membrane
- caveola necks
- caveolae
- transendothelial channels
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PLVAP gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- MAPK cascade
- tumor necrosis factor-mediated signaling pathway
- protein kinase C signaling cascade
- regulation of vascular permeability
- developmental process
- positive regulation of cellular extravasation
Cellular Component
Where in the cell the gene product is active
- caveola
- perinuclear region of cytoplasm
- extracellular vesicular exosome
- cell surface
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding