Human Gene BVES (ENST00000336775.9) from GENCODE V44
Description: Homo sapiens blood vessel epicardial substance (BVES), transcript variant A, mRNA. (from RefSeq NM_007073) RefSeq Summary (NM_007073): 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]. Gencode Transcript: ENST00000336775.9 Gencode Gene: ENSG00000112276.14 Transcript (Including UTRs) Position: hg38 chr6:105,100,613-105,136,685 Size: 36,073 Total Exon Count: 8 Strand: - Coding Region Position: hg38 chr6:105,101,089-105,133,577 Size: 32,489 Coding Exon Count: 7
ID:POPD1_HUMAN DESCRIPTION: RecName: Full=Blood vessel epicardial substance; Short=hBVES; AltName: Full=Popeye domain-containing protein 1; Short=Popeye protein 1; FUNCTION: 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. 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 Ca(2+)-independent manner. Also involved in striated muscle regeneration and repair and in the regulation of cell spreading. SUBUNIT: Homodimer. Homodimerization requires the C-terminus cytoplasmic region. Interacts (via the C-terminus cytoplasmic tail) with TJP1. Interacts (via the C-terminus cytoplasmic tail) with ARHGEF25/GEFT (via the DH domain). Interacts (via the C- terminus cytoplasmic tail) with VAMP3 (By similarity). SUBCELLULAR LOCATION: Lateral cell membrane. Cell junction, tight junction. Membrane; Multi-pass membrane protein (Potential). Note=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. TISSUE SPECIFICITY: Expressed in epithelial cells (at protein level). Expressed in fetal and adult heart and skeletal muscle. SIMILARITY: Belongs to the popeye family.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF04831 - Popeye protein conserved region
ModBase Predicted Comparative 3D Structure on Q8NE79
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.