Q9BX97 · PLVAP_HUMAN
- ProteinPlasmalemma vesicle-associated protein
- GenePLVAP
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids442 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Endothelial cell-specific membrane protein involved in the formation of the diaphragms that bridge endothelial fenestrae. It is also required for the formation of stomata of caveolae and transendothelial channels. Functions in microvascular permeability, endothelial fenestrae contributing to the passage of water and solutes and regulating transcellular versus paracellular flow in different organs. Plays a specific role in embryonic development.
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | caveola | |
Cellular Component | cell surface | |
Cellular Component | extracellular exosome | |
Cellular Component | perinuclear region of cytoplasm | |
Molecular Function | identical protein binding | |
Biological Process | developmental process | |
Biological Process | MAPK cascade | |
Biological Process | positive regulation of cellular extravasation | |
Biological Process | regulation of vascular permeability | |
Biological Process | tumor necrosis factor-mediated signaling pathway |
Enzyme and pathway databases
Protein family/group databases
Names & Taxonomy
Protein names
- Recommended namePlasmalemma vesicle-associated protein
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ9BX97
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Cell membrane ; Single-pass type II membrane protein
Membrane, caveola ; Single-pass type II membrane protein
Note: Membrane-associated protein of caveolae. Found in fenestral and stomatal diaphragms in fenestrated endothelia and transendothelial channels. Also colocalized with CAV1 in perinuclear region.
Features
Showing features for topological domain, transmembrane.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Topological domain | 1-27 | Cytoplasmic | ||||
Sequence: MGLAMEHGGSYARAGGSSRGCWYYLRY | ||||||
Transmembrane | 28-48 | Helical; Signal-anchor for type II membrane protein | ||||
Sequence: FFLFVSLIQFLIILGLVLFMV | ||||||
Topological domain | 49-442 | Extracellular | ||||
Sequence: YGNVHVSTESNLQATERRAEGLYSQLLGLTASQSNLTKELNFTTRAKDAIMQMWLNARRDLDRINASFRQCQGDRVIYTNNQRYMAAIILSEKQCRDQFKDMNKSCDALLFMLNQKVKTLEVEIAKEKTICTKDKESVLLNKRVAEEQLVECVKTRELQHQERQLAKEQLQKVQALCLPLDKDKFEMDLRNLWRDSIIPRSLDNLGYNLYHPLGSELASIRRACDHMPSLMSSKVEELARSLRADIERVARENSDLQRQKLEAQQGLRASQEAKQKVEKEAQAREAKLQAECSRQTQLALEEKAVLRKERDNLAKELEEKKREAEQLRMELAIRNSALDTCIKTKSQPMMPVSRPMGPVPNPQPIDPASLEEFKRKILESQRPPAGIPVAPSSG |
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Diarrhea 10, protein-losing enteropathy type (DIAR10)
- Note
- DescriptionAn autosomal recessive, congenital diarrheal disorder characterized by intractable secretory diarrhea with massive protein loss due to leaky fenestrated capillaries, severe hypoalbuminemia, hypogammaglobulinemia, hypertriglyceridemia, and electrolyte abnormalities. Disease severity is variable and death in infancy may occur in severe cases. Some patients show facial dysmorphic features, and cardiac and renal abnormalities.
- See alsoMIM:618183
Natural variants in DIAR10
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_081738 | 34 | L>P | in DIAR10; dbSNP:rs1568378665 | |
VAR_081739 | 330-442 | missing | in DIAR10 | |
VAR_081740 | 358-442 | missing | in DIAR10; the protein is not expressed in the patient biopsy tissues |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_081738 | 34 | in DIAR10; dbSNP:rs1568378665 | |||
Sequence: L → P | ||||||
Natural variant | VAR_081739 | 330-442 | in DIAR10 | |||
Sequence: Missing | ||||||
Natural variant | VAR_081740 | 358-442 | in DIAR10; the protein is not expressed in the patient biopsy tissues | |||
Sequence: Missing |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 557 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain, glycosylation.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000058462 | 1-442 | Plasmalemma vesicle-associated protein | |||
Sequence: MGLAMEHGGSYARAGGSSRGCWYYLRYFFLFVSLIQFLIILGLVLFMVYGNVHVSTESNLQATERRAEGLYSQLLGLTASQSNLTKELNFTTRAKDAIMQMWLNARRDLDRINASFRQCQGDRVIYTNNQRYMAAIILSEKQCRDQFKDMNKSCDALLFMLNQKVKTLEVEIAKEKTICTKDKESVLLNKRVAEEQLVECVKTRELQHQERQLAKEQLQKVQALCLPLDKDKFEMDLRNLWRDSIIPRSLDNLGYNLYHPLGSELASIRRACDHMPSLMSSKVEELARSLRADIERVARENSDLQRQKLEAQQGLRASQEAKQKVEKEAQAREAKLQAECSRQTQLALEEKAVLRKERDNLAKELEEKKREAEQLRMELAIRNSALDTCIKTKSQPMMPVSRPMGPVPNPQPIDPASLEEFKRKILESQRPPAGIPVAPSSG | ||||||
Glycosylation | 83 | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | ||||||
Glycosylation | 89 | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | ||||||
Glycosylation | 113 | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | ||||||
Glycosylation | 151 | N-linked (GlcNAc...) asparagine | ||||
Sequence: N |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Tissue specificity
Expressed in lung, kidney, heart, aorta, placenta, muscle, pituitary gland, adrenals, mammary gland, bladder, lymph node, bone marrow, trachea, digestive tract, liver and tumor-associated endothelium.
Induction
By phorbol myristate acetate (PMA) or VEGF in endothelial cell culture.
Gene expression databases
Organism-specific databases
Interaction
Subunit
Homodimer.
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q9BX97 | A0A1U9X8X8 | 3 | EBI-2803560, EBI-17234977 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for coiled coil, region.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Coiled coil | 57-77 | |||||
Sequence: ESNLQATERRAEGLYSQLLGL | ||||||
Coiled coil | 202-225 | |||||
Sequence: KTRELQHQERQLAKEQLQKVQALC | ||||||
Coiled coil | 280-387 | |||||
Sequence: SSKVEELARSLRADIERVARENSDLQRQKLEAQQGLRASQEAKQKVEKEAQAREAKLQAECSRQTQLALEEKAVLRKERDNLAKELEEKKREAEQLRMELAIRNSALD | ||||||
Region | 301-328 | Disordered | ||||
Sequence: NSDLQRQKLEAQQGLRASQEAKQKVEKE | ||||||
Region | 394-418 | Disordered | ||||
Sequence: SQPMMPVSRPMGPVPNPQPIDPASL |
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence
- Sequence statusComplete
- Length442
- Mass (Da)50,594
- Last updated2001-06-01 v1
- ChecksumD89ADBC9309A46FA
Computationally mapped potential isoform sequences
There are 2 potential isoforms mapped to this entry
Features
Showing features for sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Sequence conflict | 130 | in Ref. 2; AAK11226 | ||||
Sequence: Q → H | ||||||
Sequence conflict | 328-332 | in Ref. 3; BAC04681 | ||||
Sequence: Missing | ||||||
Sequence conflict | 439 | in Ref. 3; BAC04681 | ||||
Sequence: P → L |
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AF348827 EMBL· GenBank· DDBJ | AAK20040.1 EMBL· GenBank· DDBJ | mRNA | ||
AF326591 EMBL· GenBank· DDBJ | AAK11226.1 EMBL· GenBank· DDBJ | mRNA | ||
AK074054 EMBL· GenBank· DDBJ | BAB84880.1 EMBL· GenBank· DDBJ | mRNA | ||
AK096030 EMBL· GenBank· DDBJ | BAC04681.1 EMBL· GenBank· DDBJ | mRNA | ||
AL834363 EMBL· GenBank· DDBJ | CAD39027.2 EMBL· GenBank· DDBJ | mRNA | ||
BC050365 EMBL· GenBank· DDBJ | AAH50365.2 EMBL· GenBank· DDBJ | mRNA | ||
BC056414 EMBL· GenBank· DDBJ | AAH56414.1 EMBL· GenBank· DDBJ | mRNA |