BVES Gene Summary [Human]
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. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010]
Details
| Type | Protein Coding |
| Official Symbol | BVES |
| Official Name | blood vessel epicardial substance [Source:HGNC Symbol;Acc:HGNC:1152] |
| Ensembl ID | ENSG00000112276 |
| Bio databases IDs | |
| Aliases | blood vessel epicardial substance, popeye domain containing 1 |
| Synonyms | BVES, CARICK, HBVES, LGMD2X, LGMDR25, mBVES, POP1, popeye domain cAMP effector 1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human BVES often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- 3',5'-cAMP binding
- Popeye protein conserved region
- protein binding
- structural molecule
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- limb-girdle muscular dystrophy type 2X
- limb-girdle muscular dystrophy type 2
- limb-girdle muscular dystrophy
role in cell
- regeneration
- inhibition in
- differentiation
- recycling in
- transmembrane potential
- docking
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- cell junction
- cell periphery
- cellular membrane
- Nucleus
- caveolae
- lateral plasma membrane
- sarcolemma
- cytoplasmic vesicles
- tight junctions
- cellular protrusions
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human BVES gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of cell shape
- epithelial cell-cell adhesion
- cell migration involved in heart development
- hemopoietic progenitor cell differentiation
- positive regulation of locomotion
- sinoatrial node cell development
- muscle organ development
- regulation of heart rate
- heart development
- regulation of membrane potential
- striated muscle cell differentiation
- vesicle-mediated transport
- response to ischemia
- positive regulation of receptor recycling
- vesicle docking
- skeletal muscle tissue development
- regulation of GTPase activity
- substrate adhesion-dependent cell spreading
- regulation of endocytic recycling
Cellular Component
Where in the cell the gene product is active
- lateral plasma membrane
- caveola
- tight junction
- sarcolemma
- membrane
- cell junction
- cell projection membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- structural molecule activity
- cAMP binding