BVES

This gene encodes a member of the POP family of proteins containing three putative transmembrane domains. This gene is expressed in cardiac and skeletal muscle and may play an important role in development of these tissues. The mouse ortholog may be involved in the regeneration of adult skeletal muscle and may act as a cell adhesion molecule in coronary vasculogenesis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq]

blood vessel epicardial substance

Cell adhesion molecule involved in the establishment and/or maintenance of cell integrity. Involved in the formation and regulation of the tight junction (TJ) paracellular permeability barrier in epithelial cells (PubMed:16188940).
Plays a role in VAMP3-mediated vesicular transport and recycling of different receptor molecules through its interaction with VAMP3. Plays a role in the regulation of cell shape and movement by modulating the Rho-family GTPase activity through its interaction with ARHGEF25/GEFT. Induces primordial adhesive contact and aggregation of epithelial cells in a Ca2+-independent manner. Also involved in striated muscle regeneration and repair and in the regulation of cell spreading (By similarity).
Important for the maintenance of cardiac function. Plays a regulatory function in heart rate dynamics mediated, at least in part, through cAMP-binding and, probably, by increasing cell surface expression of the potassium channel KCNK2 and enhancing current density (PubMed:26642364).
Is also a caveolae-associated protein important for the preservation of caveolae structural and functional integrity as well as for heart protection against ischemia injury.

Cell migration involved in heart development Source: Ensembl
Epithelial cell-cell adhesion Source: UniProtKB
Heart development Source: UniProtKB
Hematopoietic progenitor cell differentiation Source: Ensembl
Muscle organ development Source: UniProtKB
Positive regulation of locomotion Source: UniProtKB
Positive regulation of receptor recycling Source: UniProtKB
Regulation of cell shape Source: UniProtKB
Regulation of endocytic recycling Source: Ensembl
Regulation of GTPase activity Source: UniProtKB
Regulation of heart rate Source: Ensembl
Regulation of membrane potential Source: GO_Central
Response to ischemia Source: UniProtKB
Sinoatrial node cell development Source: Ensembl
Skeletal muscle tissue development Source: UniProtKB
Striated muscle cell differentiation Source: GO_Central
Substrate adhesion-dependent cell spreading Source: UniProtKB
Vesicle docking Source: Ensembl
Vesicle-mediated transport Source: UniProtKB

Lateral cell membrane; Sarcolemma; Tight junction; Membrane; Caveola. Colocalizes with VAMP3 at the cell-cell contact in cardiac and skeletal muscle (By similarity). Its movement from the cytoplasm to membrane is an early event occurring concurrently with cell-cell contact. Colocalizes in epithelial cells with OCLN and TJP1 in an apical-lateral position within the z axis. Detected at cell-cell contact but never observed at the free surface of epithelial cells.

Muscular dystrophy, limb-girdle, autosomal recessive 25 (LGMDR25): An autosomal recessive muscular disorder characterized by slowly progressive onset of proximal lower limb weakness in adulthood, syncopal episodes, and markedly increased serum creatine kinase, which can increase further after strenuous exercise.

Extracellular: 1-48 aa
Helical: 49-69 aa
Cytoplasmic: 70 aa
Helical: 71-91 aa
Extracellular: 92 aa
Helical: 93-113 aa
Cytoplasmic: 114-360 aa