• Gene id: 83483

Gene Summary

• Gene Symbol: PLVAP   Gene   UCSC   Ensembl
• Aliases: DIAR10, FELS, PV-1, PV1, gp68
• Gene name: plasmalemma vesicle associated protein
• Alternate names: plasmalemma vesicle-associated protein, fenestrated endothelial-linked structure protein, fenestrated-endothelial linked structure protein; PV-1 protein, plasmalemma vesicle protein 1,
• Gene location: 19p13.11 (17377341: 17351454)     Exons: 6     NC_000019.10
• OMIM: 611196

Protein Summary

• Protein general information: Q9BX97  
  • Name: Plasmalemma vesicle associated protein (Fenestrated endothelial linked structure protein) (Plasmalemma vesicle protein 1) (PV 1)
  • Length: 442  
  • Mass: 50594
  • Tissue specificity: Expressed in lung, kidney, heart, aorta, placenta, muscle, pituitary gland, adrenals, mammary gland, bladder, lymph node, bone marrow, trachea, digestive tract, liver and tumor-associated endothelium. {ECO
• Sequence:

  MGLAMEHGGSYARAGGSSRGCWYYLRYFFLFVSLIQFLIILGLVLFMVYGNVHVSTESNLQATERRAEGLYSQLL
  GLTASQSNLTKELNFTTRAKDAIMQMWLNARRDLDRINASFRQCQGDRVIYTNNQRYMAAIILSEKQCRDQFKDM
  NKSCDALLFMLNQKVKTLEVEIAKEKTICTKDKESVLLNKRVAEEQLVECVKTRELQHQERQLAKEQLQKVQALC
  LPLDKDKFEMDLRNLWRDSIIPRSLDNLGYNLYHPLGSELASIRRACDHMPSLMSSKVEELARSLRADIERVARE
  NSDLQRQKLEAQQGLRASQEAKQKVEKEAQAREAKLQAECSRQTQLALEEKAVLRKERDNLAKELEEKKREAEQL
  RMELAIRNSALDTCIKTKSQPMMPVSRPMGPVPNPQPIDPASLEEFKRKILESQRPPAGIPVAPSSG

• Structural information:
  • Interpro: IPR009538  
  • STRING: ENSP00000252590
• Other Databases: GeneCards:  PLVAP  Malacards:  PLVAP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032502	developmental process	ISS	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005901	caveola	IEA	cellular component
GO:0042802	identical protein binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005901	caveola	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0070528	protein kinase C signaling	IDA	NOT|biological process
GO:0033209	tumor necrosis factor-mediated signaling pathway	IDA	biological process
GO:0009986	cell surface	IDA	cellular component
GO:0000165	MAPK cascade	IDA	biological process
GO:0005901	caveola	IDA	colocalizes with
GO:0005901	caveola	IDA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0002693	positive regulation of cellular extravasation	IMP	biological process
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq