PLVAP - plasmalemma vesicle associated protein Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 83483

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

PV-1: PV-1 protein (PLVAP) (1 - 442)

  • 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%, as determined by Bis-Tris PAGE.

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

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