Q9BX97 · PLVAP_HUMAN

  • Protein
    Plasmalemma vesicle-associated protein
  • Gene
    PLVAP
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

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 annotationsall molecular functionvirus receptor activitydna bindingrna bindingcytoskeletal motor activitycatalytic activitygtpase activitystructural molecule activitytransporter activitycytoskeletal protein bindinglipid bindingcyclase activityantioxidant activityoxidoreductase activitytransferase activityhydrolase activitylyase activityisomerase activityligase activityprotein tag activitycargo receptor activityhistone bindingprotein folding chaperonetranslation regulator activitynutrient reservoir activityreceptor ligand activitymolecular transducer activitymolecular adaptor activitytoxin activitycell adhesion mediator activitymolecular function regulator activityvirus coreceptor activitycatalytic activity, acting on a proteincatalytic activity, acting on dnacatalytic activity, acting on rnamolecular carrier activitytranscription regulator activitygeneral transcription initiation factor activitymolecular sensor activitymolecular sequestering activityatp-dependent activityother molecular functionall biological processmitotic cell cyclecytokinesiscytoplasmic translationimmune system processmuscle system processcirculatory system processrenal system processrespiratory system processcarbohydrate metabolic processgeneration of precursor metabolites and energydna replicationdna repairdna recombinationchromatin organizationdna-templated transcriptionregulation of dna-templated transcriptiontrna metabolic processprotein foldingprotein glycosylationamino acid metabolic processmodified amino acid metabolic processlipid metabolic processvitamin metabolic processsulfur compound metabolic processintracellular protein transportnucleocytoplasmic transportautophagyinflammatory responsemitochondrion organizationcytoskeleton organizationmicrotubule-based movementperoxisome organizationlysosome organizationchromosome segregationcell adhesionestablishment or maintenance of cell polarityprogrammed cell deathphotosynthesismrna metabolic processsnrna metabolic processvesicle-mediated transportreproductive processdigestive system processsignalingcell differentiationprotein catabolic processextracellular matrix organizationregulatory ncrna-mediated gene silencingtelomere organizationcell junction organizationwound healingribosome biogenesiscilium organizationanatomical structure developmentcell motilitynervous system processendocrine processprotein maturationtransmembrane transportnucleobase-containing small molecule metabolic processhepaticobiliary system processmembrane organizationprotein-containing complex assemblycell wall organization or biogenesisnitrogen cycle metabolic processprotein localization to plasma membranedefense response to other organismdetoxificationmeiotic nuclear divisionmitotic nuclear divisionmitochondrial gene expressioncarbohydrate derivative metabolic processother biological processall cellular componentnuclear chromosomeextracellular regionextracellular spacecell wallnucleusnuclear envelopenucleoplasmchromosomenucleolusmitochondrionlysosomeendosomevacuoleperoxisomeendoplasmic reticulumgolgi apparatuslipid dropletmicrotubule organizing centercytosolribosomecytoskeletonplasma membraneciliumplastidthylakoidexternal encapsulating structureextracellular matrixcytoplasmic vesicleorganelleother cellular component
Cell color indicative of number of GO terms
AspectTerm
Cellular Componentcaveola
Cellular Componentcell surface
Cellular Componentextracellular exosome
Cellular Componentperinuclear region of cytoplasm
Molecular Functionidentical protein binding
Biological Processdevelopmental process
Biological ProcessMAPK cascade
Biological Processpositive regulation of cellular extravasation
Biological Processregulation of vascular permeability
Biological Processtumor necrosis factor-mediated signaling pathway

Enzyme and pathway databases

Protein family/group databases

Names & Taxonomy

Protein names

  • Recommended name
    Plasmalemma vesicle-associated protein
  • Alternative names
    • Fenestrated endothelial-linked structure protein
    • Plasmalemma vesicle protein 1 (PV-1)

Gene names

    • Name
      PLVAP
    • Synonyms
      FELS, PV1

Organism names

  • Taxonomic identifier
  • Taxonomic lineage
    Eukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo

Accessions

  • Primary accession
    Q9BX97
  • Secondary accessions
    • Q86VP0
    • Q8N8Y0
    • Q8ND68
    • Q8TER8
    • Q9BZD5

Proteomes

Organism-specific databases

Subcellular Location

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.

TypeIDPosition(s)Description
Topological domain1-27Cytoplasmic
Transmembrane28-48Helical; Signal-anchor for type II membrane protein
Topological domain49-442Extracellular

Keywords

Disease & Variants

Involvement in disease

Diarrhea 10, protein-losing enteropathy type (DIAR10)

  • Note
    • The disease is caused by variants affecting the gene represented in this entry
  • Description
    An 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 also
    MIM:618183
Natural variants in DIAR10
Variant IDPosition(s)ChangeDescription
VAR_08173834L>Pin DIAR10; dbSNP:rs1568378665
VAR_081739330-442missingin DIAR10
VAR_081740358-442missingin DIAR10; the protein is not expressed in the patient biopsy tissues

Features

Showing features for natural variant.

TypeIDPosition(s)Description
Natural variantVAR_08173834in DIAR10; dbSNP:rs1568378665
Natural variantVAR_081739330-442in DIAR10
Natural variantVAR_081740358-442in DIAR10; the protein is not expressed in the patient biopsy tissues

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.

Go to variant viewer

Keywords

Organism-specific databases

Miscellaneous

Genetic variation databases

PTM/Processing

Features

Showing features for chain, glycosylation.

TypeIDPosition(s)Description
ChainPRO_00000584621-442Plasmalemma vesicle-associated protein
Glycosylation83N-linked (GlcNAc...) asparagine
Glycosylation89N-linked (GlcNAc...) asparagine
Glycosylation113N-linked (GlcNAc...) asparagine
Glycosylation151N-linked (GlcNAc...) asparagine

Keywords

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

TypeEntry 1Entry 2Number of experimentsIntact
BINARY Q9BX97 A0A1U9X8X83EBI-2803560, EBI-17234977

Protein-protein interaction databases

Miscellaneous

Structure

Family & Domains

Features

Showing features for coiled coil, region.

TypeIDPosition(s)Description
Coiled coil57-77
Coiled coil202-225
Coiled coil280-387
Region301-328Disordered
Region394-418Disordered

Keywords

Phylogenomic databases

Family and domain databases

Sequence

  • Sequence status
    Complete
  • Length
    442
  • Mass (Da)
    50,594
  • Last updated
    2001-06-01 v1
  • Checksum
    D89ADBC9309A46FA
MGLAMEHGGSYARAGGSSRGCWYYLRYFFLFVSLIQFLIILGLVLFMVYGNVHVSTESNLQATERRAEGLYSQLLGLTASQSNLTKELNFTTRAKDAIMQMWLNARRDLDRINASFRQCQGDRVIYTNNQRYMAAIILSEKQCRDQFKDMNKSCDALLFMLNQKVKTLEVEIAKEKTICTKDKESVLLNKRVAEEQLVECVKTRELQHQERQLAKEQLQKVQALCLPLDKDKFEMDLRNLWRDSIIPRSLDNLGYNLYHPLGSELASIRRACDHMPSLMSSKVEELARSLRADIERVARENSDLQRQKLEAQQGLRASQEAKQKVEKEAQAREAKLQAECSRQTQLALEEKAVLRKERDNLAKELEEKKREAEQLRMELAIRNSALDTCIKTKSQPMMPVSRPMGPVPNPQPIDPASLEEFKRKILESQRPPAGIPVAPSSG

Computationally mapped potential isoform sequences

There are 2 potential isoforms mapped to this entry

View all
EntryEntry nameGene nameLength
M0R310M0R310_HUMANPLVAP188
M0QXT5M0QXT5_HUMANPLVAP53

Features

Showing features for sequence conflict.

TypeIDPosition(s)Description
Sequence conflict130in Ref. 2; AAK11226
Sequence conflict328-332in Ref. 3; BAC04681
Sequence conflict439in Ref. 3; BAC04681

Keywords

Sequence databases

Nucleotide SequenceProtein SequenceMolecule TypeStatus
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

Genome annotation databases

Similar Proteins

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice.
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