1. Gene
  2. PLVAP - plasmalemma vesicle associated protein Gene

PLVAP - plasmalemma vesicle associated protein Gene

中文名称:质膜囊泡相关蛋白

种属: Homo sapiens

同用名: PV1; FELS; PV-1; gp68; DIAR10

基因 ID: 83483 | 基因类型: protein coding

关于 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.

功能概要

预测具有相同的蛋白质结合活性。参与 MAPK 级联;细胞外渗的正向调节;和肿瘤坏死因子介导的信号通路。位于细胞表面。与小窝共定位。与先天性腹泻有关。 [由基因组资源联盟提供,2022 年 4 月]

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 基因产物(1)

mRNA Protein Name
NM_031310.3 NP_112600.1 plasmalemma vesicle-associated protein
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
19420356 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in MAPK cascade IDA
IDA: 通过直接分析推断
15155804 GOA
involved in positive regulation of cellular extravasation IMP
IMP: 通过突变表型推断
19420356 GOA
involved in tumor necrosis factor-mediated signaling pathway IDA
IDA: 通过直接分析推断
19420356 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
colocalizes with caveola IDA
IDA: 通过直接分析推断
19420356 GOA
located in caveola IDA
IDA: 通过直接分析推断
15155804 GOA
located in cell surface IDA
IDA: 通过直接分析推断
15155804 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

PLVAP 蛋白结构

PV-1

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

  • 0
  • 100
  • 200
  • 300
  • 400
  • 442 a.a.
蛋白主名 其他名称

plasmalemma vesicle-associated protein

fenestrated endothelial-linked structure protein

重组 PLVAP 蛋白

目录号 产品名 蛋白编号 纯度
HY-P700879 PLVAP Protein, Human (HEK293, His) Q9BX97 (Y49-G442) ≥95%

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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