BVES (blood vessel epicardial substance)

Gene

• Entrez ID: 11149
• Gene name: Blood vessel epicardial substance
• Gene symbol: BVES
• Synonyms: CARICK, HBVES, LGMD2X, LGMDR25, POP1, POPDC1
• Chromosome: 6
• Chromosome location: 6q21
• Summary: 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]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs759745220	AAAG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs796206315	G>A	Pathogenic	Stop gained, coding sequence variant
rs869025337	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs1332603843	T>C	Pathogenic	Initiator codon variant, missense variant
rs1562133291	A>G	Pathogenic	Splice donor variant
rs1562137622	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016150	hsa-miR-615-3p	Sequencing	20371350
MIRT022303	hsa-miR-124-3p	Microarray	18668037
MIRT050715	hsa-miR-18a-5p	CLASH	23622248
MIRT238704	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT504520	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT504520	hsa-miR-1277-5p	PAR-CLIP, HITS-CLIP	21572407
MIRT504520	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT504521	hsa-miR-297	PAR-CLIP	23446348
MIRT504521	hsa-miR-297	PAR-CLIP, HITS-CLIP	21572407
MIRT504521	hsa-miR-297	PAR-CLIP	20371350
MIRT504521	hsa-miR-297	HITS-CLIP	27418678
MIRT504522	hsa-miR-3924	PAR-CLIP	23446348
MIRT504522	hsa-miR-3924	PAR-CLIP, HITS-CLIP	21572407
MIRT504522	hsa-miR-3924	PAR-CLIP	20371350
MIRT504522	hsa-miR-3924	HITS-CLIP	27418678
MIRT504523	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT504523	hsa-miR-190a-3p	PAR-CLIP, HITS-CLIP	21572407
MIRT504523	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT504523	hsa-miR-190a-3p	HITS-CLIP	23706177
MIRT504523	hsa-miR-190a-3p	HITS-CLIP	27418678
MIRT504524	hsa-miR-567	PAR-CLIP	23446348
MIRT504524	hsa-miR-567	PAR-CLIP, HITS-CLIP	21572407
MIRT504524	hsa-miR-567	PAR-CLIP	20371350
MIRT504524	hsa-miR-567	HITS-CLIP	27418678
MIRT504525	hsa-miR-511-3p	PAR-CLIP	23446348
MIRT504525	hsa-miR-511-3p	PAR-CLIP, HITS-CLIP	21572407
MIRT504525	hsa-miR-511-3p	PAR-CLIP	20371350
MIRT504525	hsa-miR-511-3p	HITS-CLIP	27418678
MIRT504526	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT504526	hsa-miR-5011-5p	PAR-CLIP, HITS-CLIP	21572407
MIRT504526	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT504526	hsa-miR-5011-5p	HITS-CLIP	23706177
MIRT504526	hsa-miR-5011-5p	HITS-CLIP	27418678
MIRT509775	hsa-miR-4528	PAR-CLIP	23446348
MIRT509775	hsa-miR-4528	PAR-CLIP, HITS-CLIP	21572407
MIRT509775	hsa-miR-4528	PAR-CLIP	20371350
MIRT509776	hsa-miR-6867-5p	PAR-CLIP	23446348
MIRT509776	hsa-miR-6867-5p	PAR-CLIP, HITS-CLIP	21572407
MIRT509776	hsa-miR-6867-5p	PAR-CLIP	20371350
MIRT509776	hsa-miR-6867-5p	HITS-CLIP	23706177
MIRT509776	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT509777	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT509777	hsa-miR-223-5p	PAR-CLIP, HITS-CLIP	21572407
MIRT509777	hsa-miR-223-5p	PAR-CLIP	20371350
MIRT509777	hsa-miR-223-5p	HITS-CLIP	23706177
MIRT509777	hsa-miR-223-5p	HITS-CLIP	27418678
MIRT517891	hsa-miR-574-5p	PAR-CLIP	23446348
MIRT517891	hsa-miR-574-5p	PAR-CLIP, HITS-CLIP	21572407
MIRT517891	hsa-miR-574-5p	HITS-CLIP	23706177
MIRT517891	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT544921	hsa-miR-3613-3p	PAR-CLIP	21572407
MIRT670621	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT670622	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT670623	hsa-miR-3689c	HITS-CLIP	23824327
MIRT670624	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT670625	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT670626	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT670627	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT670628	hsa-miR-4314	HITS-CLIP	23824327
MIRT670629	hsa-miR-7977	HITS-CLIP	23824327
MIRT670630	hsa-miR-1295a	HITS-CLIP	23824327
MIRT670631	hsa-miR-3178	HITS-CLIP	23824327
MIRT670632	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT670633	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT670634	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT670635	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT670636	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT670637	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT670638	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT670639	hsa-miR-4284	HITS-CLIP	23824327
MIRT670640	hsa-miR-6506-5p	HITS-CLIP	23824327
MIRT670641	hsa-miR-619-5p	HITS-CLIP	23824327
MIRT670642	hsa-miR-3192-5p	HITS-CLIP	23824327
MIRT670643	hsa-miR-4646-5p	HITS-CLIP	23824327
MIRT670644	hsa-miR-204-3p	HITS-CLIP	23824327
MIRT670645	hsa-miR-330-5p	HITS-CLIP	23824327
MIRT670646	hsa-miR-326	HITS-CLIP	23824327
MIRT670647	hsa-miR-6499-5p	HITS-CLIP	23824327
MIRT670648	hsa-miR-514a-5p	HITS-CLIP	23824327
MIRT681492	hsa-miR-6505-5p	HITS-CLIP	23706177
MIRT681492	hsa-miR-6505-5p	HITS-CLIP	21572407
MIRT681493	hsa-miR-3688-3p	HITS-CLIP	23706177
MIRT681493	hsa-miR-3688-3p	HITS-CLIP	21572407
MIRT681493	hsa-miR-3688-3p	HITS-CLIP	27418678
MIRT681494	hsa-miR-8076	HITS-CLIP	23706177
MIRT681494	hsa-miR-8076	HITS-CLIP	21572407
MIRT681494	hsa-miR-8076	HITS-CLIP	27418678
MIRT694765	hsa-miR-665	HITS-CLIP	23313552
MIRT694766	hsa-miR-510-5p	HITS-CLIP	23313552
MIRT694767	hsa-miR-6771-5p	HITS-CLIP	23313552
MIRT694768	hsa-miR-5192	HITS-CLIP	23313552
MIRT694769	hsa-miR-7160-5p	HITS-CLIP	23313552
MIRT694770	hsa-miR-4722-5p	HITS-CLIP	23313552
MIRT694771	hsa-miR-6884-5p	HITS-CLIP	23313552
MIRT694772	hsa-miR-485-5p	HITS-CLIP	23313552
MIRT694773	hsa-miR-1827	HITS-CLIP	23313552
MIRT694774	hsa-miR-4693-3p	HITS-CLIP	23313552
MIRT694775	hsa-miR-4649-3p	HITS-CLIP	23313552
MIRT694776	hsa-miR-6746-5p	HITS-CLIP	23313552
MIRT694777	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT694778	hsa-miR-5690	HITS-CLIP	23313552
MIRT694779	hsa-miR-2114-5p	HITS-CLIP	23313552
MIRT694780	hsa-miR-5588-3p	HITS-CLIP	23313552
MIRT694781	hsa-miR-940	HITS-CLIP	23313552
MIRT694782	hsa-miR-6893-5p	HITS-CLIP	23313552
MIRT694783	hsa-miR-6808-5p	HITS-CLIP	23313552

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001921	Process	Positive regulation of receptor recycling	ISS
GO:0002027	Process	Regulation of heart rate	IEA
GO:0002244	Process	Hematopoietic progenitor cell differentiation	IEA
GO:0002931	Process	Response to ischemia	ISS
GO:0005198	Function	Structural molecule activity	IDA	16188940
GO:0005515	Function	Protein binding	IPI	26642364
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	ISS
GO:0005901	Component	Caveola	ISS
GO:0005923	Component	Bicellular tight junction	IDA	16188940
GO:0007507	Process	Heart development	IBA	21873635
GO:0007507	Process	Heart development	IMP	26642364
GO:0007517	Process	Muscle organ development	NAS	10441744
GO:0007519	Process	Skeletal muscle tissue development	IBA	21873635
GO:0007519	Process	Skeletal muscle tissue development	IMP	26642364
GO:0008360	Process	Regulation of cell shape	ISS
GO:0016021	Component	Integral component of membrane	IDA	16188940
GO:0016021	Component	Integral component of membrane	NAS	10441744
GO:0016192	Process	Vesicle-mediated transport	ISS
GO:0016328	Component	Lateral plasma membrane	IDA	16188940
GO:0030054	Component	Cell junction	IDA
GO:0030552	Function	CAMP binding	IBA	21873635
GO:0031253	Component	Cell projection membrane	IEA
GO:0034446	Process	Substrate adhesion-dependent cell spreading	ISS
GO:0040017	Process	Positive regulation of locomotion	ISS
GO:0042383	Component	Sarcolemma	IBA	21873635
GO:0042383	Component	Sarcolemma	IDA	26642364
GO:0042391	Process	Regulation of membrane potential	IBA	21873635
GO:0043087	Process	Regulation of GTPase activity	ISS
GO:0048278	Process	Vesicle docking	IEA
GO:0051146	Process	Striated muscle cell differentiation	IBA	21873635
GO:0060931	Process	Sinoatrial node cell development	IEA
GO:0060973	Process	Cell migration involved in heart development	IEA
GO:0090136	Process	Epithelial cell-cell adhesion	IDA	16188940
GO:2001135	Process	Regulation of endocytic recycling	IEA

Other IDs

• MIM: 604577
• HGNC: 1152
• e!Ensembl: ENSG00000112276

Protein

• UniProt ID: Q8NE79
• Protein name: Blood vessel epicardial substance (hBVES) (Popeye domain-containing protein 1) (Popeye protein 1)
• Protein 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 (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 Ca(2+)-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.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04831	Popeye	40 → 267	Popeye protein conserved region	Family

• Sequence:

  MNYTESSPLRESTAIGFTPELESIIPVPSNKTTCENWREIHHLVFHVANICFAVGLVIPT
  TLHLHMIFLRGMLTLGCTLYIVWATLYRCALDIMIWNSVFLGVNILHLSYLLYKKRPVKI
  EKELSGMYRRLFEPLRVPPDLFRRLTGQFCMIQTLKKGQTYAAEDKTSVDDRLSILLKGK
  MKVSYRGHFLHNIYPCAFIDSPEFRSTQMHKGEKFQVTIIADDNCRFLCWSRERLTYFLE
  SEPFLYEIFRYLIGKDITNKLYSLNDPTLNDKKAKKLEHQLSLCTQISMLEMRNSIASSS
  DSDDGLHQFLRGTSSMSSLHVSSPHQRASAKMKPIEEGAEDDDDVFEPASPNTLKVHQLP
  

• Sequence length: 360