PLVAP - plasmalemma vesicle associated protein Gene

Homo sapiens

Also known as PV1; FELS; PV-1; gp68; DIAR10

Gene ID: 83483 | Gene type: protein coding

About PLVAP

Cytogenetic location: 19p13.11 Genomic coordinates (GRCh38): 19:17,351,455-17,377,342 (from NCBI)

This gene has 3 transcripts (splice variants), 244 orthologues and is associated with 2 phenotypes. Broad expression in thyroid (RPKM 131.8), spleen (RPKM 92.7) and 20 other tissues.

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 cell surface. Colocalizes with caveola. Implicated in congenital diarrhea. [provided by Alliance of Genome Resources, Apr 2022]

PLVAP Products(1)

mRNA	Protein	Name
NM_031310.3	NP_112600.1	plasmalemma vesicle-associated protein

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	19420356	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in MAPK cascade	IDA IDA: Inferred from direct assay	15155804	GOA
involved in positive regulation of cellular extravasation	IMP IMP: Inferred from mutant phenotype	19420356	GOA
involved in tumor necrosis factor-mediated signaling pathway	IDA IDA: Inferred from direct assay	19420356	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
colocalizes with caveola	IDA IDA: Inferred from direct assay	19420356	GOA
located in caveola	IDA IDA: Inferred from direct assay	15155804	GOA
located in cell surface	IDA IDA: Inferred from direct assay	15155804	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PLVAP Protein Structure

PV-1

0
100
200
300
400
442 a.a.

Protein Preferred Names

Protein Names

plasmalemma vesicle-associated protein

fenestrated endothelial-linked structure protein

Recombinant PLVAP Proteins

Cat. No.	Product Name	Accession	Purity
HY-P700879	PLVAP Protein, Human (HEK293, His)	Q9BX97 (Y49-G442)	≥95%

Related Diseases

Diseases

Alias

Diarrhea 10, Protein-Losing Enteropathy Type

DIAR10

Congenital Diarrhea 7 With Exudative Enteropathy

Congenital Chronic Diarrhea With Exudative Enteropathy	Congenital Chronic Diarrhea With Protein-Losing Enteropathy
Congenital Chronic Diarrhoea With Exudative Enteropathy	Congenital Chronic Diarrhoea With Protein-Losing Enteropathy
Congenital Diarrhoea 7 With Exudative Enteropathy

Protein-Losing Enteropathy

Protein-Losing Enteropathies	Enteropathy, Exudative
Exudative Enteropathy	Ple - [Protein-Losing Enteropathy]

Congenital Diarrhea

Secretory Diarrhea

Diarrhea

Diarrhoea

Diarrhea Of Presumed Infectious Origin

Diarrhea 8, Secretory Sodium, Congenital

Congenital Secretory Sodium Diarrhea 8	DIAR8
Diarrhea, Congenital Sodium	Csd
Congenital Secretory Diarrhea, Sodium Type

Diarrhea 5, With Tufting Enteropathy, Congenital

Congenital Diarrhea 5 With Tufting Enteropathy	Congenital Tufting Enteropathy
DIAR5	Cte
Intestinal Epithelial Cell Dysplasia	Tufting Enteropathy
Ied	Intestinal Epithelial Dysplasia
Enteropathy, Congenital Tufting	Congenital Diarrhoea 5 With Tufting Enteropathy
Congenital Familial Intractable Diarrhea With Epithelial Or Epithelium Abnormalities	Congenital Familial Intractable Diarrhoea With Epithelial Or Epithelium Abnormalities
Congenital Enteropathy	Congenital Familial Intractable Diarrhea With Enterocytes Assembly Abnormalities
Non-Syndromic Congenital Tufting Enteropathy	Diarrhea, Type 5, With Tufting Enteropathy, Congenital
Intestinal Intraepithelial Neoplasia

Norrie Disease

Atrophia Bulborum Hereditaria	Episkopi Blindness
Pseudoglioma	ND
Norrie-Warburg Disease	Anderson-Warburg Syndrome
Fetal Iritis Syndrome	Norrie Syndrome
Norrie-Warburg Syndrome	Ndp
Congenital Progressive Oculo-Acoustico-Cerebral Degeneration	Norrie'S Disease
Oligophrenia Microphthalmus	Pseudoglioma Congenita
Whitnall-Norman Syndrome

Exudative Vitreoretinopathy

Familial Exudative Vitreoretinopathy	Fevr
Criswick-Schepens Syndrome	Exudative Vitreoretinopathy, Familial
Vitreoretinopathy, Exudative )	Exudative Vitreoretinopathy 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10745	PLVAP Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	PLVAP	RGD	RGD:619971
Macaca mulatta	PLVAP	VGNC	VGNC:76021
Canis familiaris	PLVAP	VGNC	VGNC:44715
Felis catus	PLVAP	VGNC	VGNC:64249
Mus musculus	PLVAP	MGD	MGI:1890497
Bos taurus	PLVAP	VGNC	VGNC:33056
Others	PLVAP	NCBI

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