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 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr6:105,100,613-105,136,685)mRNA (may differ from genome)Protein (360 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
OMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
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.

-  Primer design for this transcript

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3

-  MalaCards Disease Associations
  MalaCards Gene Search: BVES
Diseases sorted by gene-association score: muscular dystrophy, limb-girdle, type 2x* (1600), muscular dystrophy (4), tetralogy of fallot (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 14.12 RPKM in Muscle - Skeletal
Total median expression: 140.70 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -44.30104-0.426 Picture PostScript Text
3' UTR -106.00476-0.223 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR018490 - cNMP-bd-like
IPR006916 - Popeye_prot
IPR014710 - RmlC-like_jellyroll

Pfam Domains:
PF04831 - Popeye protein conserved region

ModBase Predicted Comparative 3D Structure on Q8NE79
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
Protein Sequence     

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0005198 structural molecule activity
GO:0005515 protein binding
GO:0030552 cAMP binding

Biological Process:
GO:0001921 positive regulation of receptor recycling
GO:0002027 regulation of heart rate
GO:0002244 hematopoietic progenitor cell differentiation
GO:0002931 response to ischemia
GO:0007155 cell adhesion
GO:0007275 multicellular organism development
GO:0007507 heart development
GO:0007517 muscle organ development
GO:0007519 skeletal muscle tissue development
GO:0008360 regulation of cell shape
GO:0016192 vesicle-mediated transport
GO:0034446 substrate adhesion-dependent cell spreading
GO:0040017 positive regulation of locomotion
GO:0042391 regulation of membrane potential
GO:0043087 regulation of GTPase activity
GO:0048278 vesicle docking
GO:0060931 sinoatrial node cell development
GO:0060973 cell migration involved in heart development
GO:0090136 epithelial cell-cell adhesion
GO:2001135 regulation of endocytic recycling

Cellular Component:
GO:0005886 plasma membrane
GO:0005901 caveola
GO:0005923 bicellular tight junction
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016328 lateral plasma membrane
GO:0030054 cell junction
GO:0031253 cell projection membrane
GO:0042383 sarcolemma

-  Descriptions from all associated GenBank mRNAs
  BC040502 - Homo sapiens blood vessel epicardial substance, mRNA (cDNA clone MGC:33881 IMAGE:5295907), complete cds.
AF124512 - Homo sapiens BVES mRNA, partial cds.
AF204172 - Homo sapiens clone IMAGE:298343 popeye protein 1 (POP1) mRNA, complete cds.
BC034425 - Homo sapiens blood vessel epicardial substance, mRNA (cDNA clone MGC:42413 IMAGE:4821891), complete cds.
AK289979 - Homo sapiens cDNA FLJ76002 complete cds, highly similar to Homo sapiens blood vessel epicardial substance (BVES), transcriptvariant A, mRNA.
KJ902209 - Synthetic construct Homo sapiens clone ccsbBroadEn_11603 BVES gene, encodes complete protein.
HQ447848 - Synthetic construct Homo sapiens clone IMAGE:100071192; CCSB002321_01 blood vessel epicardial substance (BVES) gene, encodes complete protein.
KJ893236 - Synthetic construct Homo sapiens clone ccsbBroadEn_02630 BVES gene, encodes complete protein.
CU691896 - Synthetic construct Homo sapiens gateway clone IMAGE:100020851 5' read BVES mRNA.
CU689892 - Synthetic construct Homo sapiens gateway clone IMAGE:100019087 5' read BVES mRNA.
JD087351 - Sequence 68375 from Patent EP1572962.
JD049192 - Sequence 30216 from Patent EP1572962.
JD256384 - Sequence 237408 from Patent EP1572962.
JD206145 - Sequence 187169 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A8K1R4, E1P5D8, ENST00000336775.1, ENST00000336775.2, ENST00000336775.3, ENST00000336775.4, ENST00000336775.5, ENST00000336775.6, ENST00000336775.7, ENST00000336775.8, NM_007073, POP1, POPD1_HUMAN, POPDC1, Q5T550, Q5T551, Q8IWC6, Q8NE79, Q9HBV0, Q9UNG6, uc003pqx.1, uc003pqx.2, uc003pqx.3, uc003pqx.4
UCSC ID: ENST00000336775.9
RefSeq Accession: NM_007073
Protein: Q8NE79 (aka POPD1_HUMAN or BVES_HUMAN)
CCDS: CCDS5051.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.