PLVAP plasmalemma vesicle associated protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: PLVAPprovided by HGNC
Official Full Name: plasmalemma vesicle associated proteinprovided by HGNC
Primary source: HGNC:HGNC:13635
See related: Ensembl:ENSG00000130300 MIM:607647; AllianceGenome:HGNC:13635
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PV1; FELS; PV-1; gp68; DIAR10
Summary: 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 caveola and cell surface. Implicated in congenital diarrhea. [provided by Alliance of Genome Resources, Oct 2024]
Expression: Broad expression in thyroid (RPKM 131.8), spleen (RPKM 92.7) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.11

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (17351455..17377342, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (17486174..17512068, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (17462264..17488151, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The role of PLVAP in endothelial cells.
Title: The role of PLVAP in endothelial cells.
PLVAP protein expression correlated with microbial composition, clinicopathological features, and prognosis of patients with stomach adenocarcinoma.
Title: PLVAP protein expression correlated with microbial composition, clinicopathological features, and prognosis of patients with stomach adenocarcinoma.
Plasmalemmal Vesicle-Associated Protein Is Associated with Endothelial Cells Sprouting from the Peribiliary Capillary Plexus in Human Cirrhotic Liver.
Title: Plasmalemmal Vesicle-Associated Protein Is Associated with Endothelial Cells Sprouting from the Peribiliary Capillary Plexus in Human Cirrhotic Liver.
Plasmalemma vesicle-associated protein promotes angiogenesis in cholangiocarcinoma via the DKK1/CKAP4/PI3K signaling pathway.
Title: Plasmalemma vesicle-associated protein promotes angiogenesis in cholangiocarcinoma via the DKK1/CKAP4/PI3K signaling pathway.
Circulating PV-1 as a marker of celiac disease-associated liver injury.
Title: Circulating PV-1 as a marker of celiac disease-associated liver injury.
A novel homozygous stop mutation (c.988C>T, p.Q330*) was discovered in PLVAP gene in a newborn with fatal protein-losing enteropathy (PLE), facial dysmorphism, and renal, ocular and cardiac anomalies.
Title: Mutations in plasmalemma vesicle-associated protein cause severe syndromic protein-losing enteropathy.
PLVAP is essential in the retina during early development for proper retinal vascularization
Title: Expression patterns of endothelial permeability pathways in the development of the blood-retinal barrier in mice.
PV-1 transcription was markedly induced in diabetic retina and by VEGF in retinal endothelial cells
Title: Altered expression of genes related to blood-retina barrier disruption in streptozotocin-induced diabetes.
Expression of plasmalemma vesicle-associated protein (PLVAP) is increased in endothelial cells in the presence of VEGF
Title: A novel co-culture model of the blood-retinal barrier based on primary retinal endothelial cells, pericytes and astrocytes.
In Kimba and Akimba mice fluorescein leakage was associated with focal angiogenesis and correlated significantly with Plvap gene expression.
Title: Molecular analysis of blood-retinal barrier loss in the Akimba mouse, a model of advanced diabetic retinopathy.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Diarrhea 10, protein-losing enteropathy type MedGen: C4748579 OMIM: 618183 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH66747 (e-PCR)
- UniSTS:19545

STS-AA010816 (e-PCR)
- UniSTS:8637

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in MAPK cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in developmental process	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cellular extravasation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cellular extravasation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of vascular permeability	IBA Inferred from Biological aspect of Ancestor more info
involved_in tumor necrosis factor-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
colocalizes_with caveola	IDA Inferred from Direct Assay more info	PubMed
located_in caveola	IDA Inferred from Direct Assay more info	PubMed
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: plasmalemma vesicle-associated protein

Names: fenestrated endothelial-linked structure protein; fenestrated-endothelial linked structure protein; PV-1 protein; plasmalemma vesicle protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.