Entity Details

Primary name PLVAP_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9BX97
EntryNamePLVAP_HUMAN
FullNamePlasmalemma vesicle-associated protein
TaxID9606
Evidenceevidence at protein level
Length442
SequenceStatuscomplete
DateCreated2005-08-30
DateModified2021-06-02

Ontological Relatives

GenesPLVAP

GO terms

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GOName
GO:0000165 MAPK cascade
GO:0002693 positive regulation of cellular extravasation
GO:0005901 caveola
GO:0009986 cell surface
GO:0016021 integral component of membrane
GO:0032502 developmental process
GO:0033209 tumor necrosis factor-mediated signaling pathway
GO:0042802 identical protein binding
GO:0048471 perinuclear region of cytoplasm
GO:0070062 extracellular exosome

Subcellular Location

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Subcellular Location
Cell membrane
Cytoplasm
Membrane

Domains

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DomainNameCategoryType
IPR009538 Plasmalemma vesicle-associated proteinFamilyFamily

Diseases

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Disease IDSourceNameDescription
618183 OMIMDiarrhea 10, protein-losing enteropathy type (DIAR10)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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

2 interactions

InteractorPartnerSourcesPublicationsLink
PLVAP_HUMANCDSN_HUMANBioGRID32296183 details
PLVAP_HUMANNRP1_HUMANBioGRID22627768 details