PLVAP
entrez
83483
canonical
uniprot
Q9BX97
canonical
ensembl
ENSG00000130300
resolver
ensp
ENSP00000252590
resolver
enst
ENST00000252590
resolver
genesymbol
PLVAP
resolver
genesymbol_syn
FELS
resolver
genesymbol_syn
PV1
resolver
hgnc
HGNC:13635
resolver
uniprot
Q86VP0
resolver
uniprot
Q8N8Y0
resolver
uniprot
Q8ND68
resolver
uniprot
Q8TER8
resolver
uniprot
Q9BZD5
resolver
uniprot_entry
PLVAP_HUMAN
resolver
uniprot_sec
Q86VP0
resolver
uniprot_sec
Q8N8Y0
resolver
uniprot_sec
Q8ND68
resolver
uniprot_sec
Q8TER8
resolver
uniprot_sec
Q9BZD5
resolver
amino_acid_sequence
MGLAMEHGGSYARAGGSSRGCWYYLRYFFLFVSLIQFLIILGLVLFMVYGNVHVSTESNLQATERRAEGLYSQLLGLTASQSNLTKELNFTTRAKDAIMQMWLNARRDLDRINASFRQCQGDRVIYTNNQRYMAAIILSEKQCRDQFKDMNKSCDALLFMLNQKVKTLEVEIAKEKTICTKDKESVLLNKRVAEEQLVECVKTRELQHQERQLAKEQLQKVQALCLPLDKDKFEMDLRNLWRDSIIPRSLDNLGYNLYHPLGSELASIRRACDHMPSLMSSKVEELARSLRADIERVARENSDLQRQKLEAQQGLRASQEAKQKVEKEAQAREAKLQAECSRQTQLALEEKAVLRKERDNLAKELEEKKREAEQLRMELAIRNSALDTCIKTKSQPMMPVSRPMGPVPNPQPIDPASLEEFKRKILESQRPPAGIPVAPSSG
uniprot
proteins
disease_involvement
DISEASE: Diarrhea 10, protein-losing enteropathy type (DIAR10) [MIM:618183]: An autosomal recessive, congenital diarrheal disorder characterized by intractable secretory diarrhea with massive protein loss due to leaky fenestrated capillaries, severe hypoalbuminemia, hypogammaglobulinemia, hypertriglyceridemia, and electrolyte abnormalities. Disease severity is variable and death in infancy may occur in severe cases. Some patients show facial dysmorphic features, and cardiac and renal abnormalities. {ECO:0000269|PubMed:26207260, ECO:0000269|PubMed:29661969, ECO:0000269|PubMed:29875123}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Endothelial cell-specific membrane protein involved in the formation of the diaphragms that bridge endothelial fenestrae. It is also required for the formation of stomata of caveolae and transendothelial channels. Functions in microvascular permeability, endothelial fenestrae contributing to the passage of water and solutes and regulating transcellular versus paracellular flow in different organs. Plays a specific role in embryonic development. {ECO:0000250|UniProtKB:Q91VC4}.
uniprot
proteins
mass_dalton
50594
uniprot
proteins
pubmed
11401446
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15155804
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15971170
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
26207260
uniprot
proteins
pubmed
29661969
uniprot
proteins
pubmed
29875123
uniprot
proteins
sequence_length
442
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q9WV78}; Single-pass type II membrane protein {ECO:0000255}. Membrane, caveola {ECO:0000250|UniProtKB:Q9WV78}; Single-pass type II membrane protein {ECO:0000255}. Cytoplasm, perinuclear region {ECO:0000250|UniProtKB:Q9WV78}. Note=Membrane-associated protein of caveolae. Found in fenestral and stomatal diaphragms in fenestrated endothelia and transendothelial channels. Also colocalized with CAV1 in perinuclear region. {ECO:0000250|UniProtKB:Q9WV78}.
uniprot
proteins
transmembrane_region
TRANSMEM 28..48; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins