• Gene id: 11149

Gene Summary

• Gene Symbol: BVES   Gene   UCSC   Ensembl
• Aliases: CARICK, HBVES, LGMD2X, LGMDR25, POP1, POPDC1
• Gene name: blood vessel epicardial substance
• Alternate names: blood vessel epicardial substance, popeye domain-containing protein 1,
• Gene location: 6q21 (135557916: 135648752)     Exons: 43     NC_000007.14
• Gene summary(Entrez): 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 invol
• OMIM: 604577

Protein Summary

• Protein general information: Q8NE79  
  • Name: Blood vessel epicardial substance (hBVES) (Popeye domain containing protein 1) (Popeye protein 1)
  • Length: 360  
  • Mass: 41451
  • Tissue specificity: Expressed in epithelial cells (at protein level). Expressed in fetal and adult heart and skeletal muscle. {ECO
• Sequence:

  MNYTESSPLRESTAIGFTPELESIIPVPSNKTTCENWREIHHLVFHVANICFAVGLVIPTTLHLHMIFLRGMLTL
  GCTLYIVWATLYRCALDIMIWNSVFLGVNILHLSYLLYKKRPVKIEKELSGMYRRLFEPLRVPPDLFRRLTGQFC
  MIQTLKKGQTYAAEDKTSVDDRLSILLKGKMKVSYRGHFLHNIYPCAFIDSPEFRSTQMHKGEKFQVTIIADDNC
  RFLCWSRERLTYFLESEPFLYEIFRYLIGKDITNKLYSLNDPTLNDKKAKKLEHQLSLCTQISMLEMRNSIASSS
  DSDDGLHQFLRGTSSMSSLHVSSPHQRASAKMKPIEEGAEDDDDVFEPASPNTLKVHQLP

• Structural information:
  • Interpro: IPR018490  IPR006916  IPR014710  
  • STRING: ENSP00000313172
• Other Databases: GeneCards:  BVES  Malacards:  BVES

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051146	striated muscle cell differentiation	IBA	biological process
GO:0042391	regulation of membrane potential	IBA	biological process
GO:0042383	sarcolemma	IBA	cellular component
GO:0030552	cAMP binding	IBA	molecular function
GO:0016020	membrane	IBA	cellular component
GO:0007519	skeletal muscle tissue development	IBA	biological process
GO:0007507	heart development	IBA	biological process
GO:0016328	lateral plasma membrane	IDA	cellular component
GO:0005923	bicellular tight junction	IDA	cellular component
GO:0005198	structural molecule activity	IDA	molecular function
GO:0090136	epithelial cell-cell adhesion	IDA	biological process
GO:0016021	integral component of membrane	IDA	cellular component
GO:0042383	sarcolemma	IDA	cellular component
GO:0040017	positive regulation of locomotion	ISS	biological process
GO:0016192	vesicle-mediated transport	ISS	biological process
GO:0008360	regulation of cell shape	ISS	biological process
GO:0002931	response to ischemia	ISS	biological process
GO:0005901	caveola	ISS	cellular component
GO:0034446	substrate adhesion-dependent cell spreading	ISS	biological process
GO:0043087	regulation of GTPase activity	ISS	biological process
GO:0005886	plasma membrane	ISS	cellular component
GO:0001921	positive regulation of receptor recycling	ISS	biological process
GO:0007507	heart development	IMP	biological process
GO:0007519	skeletal muscle tissue development	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0030552	cAMP binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0002931	response to ischemia	IEA	biological process
GO:0005901	caveola	IEA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0008360	regulation of cell shape	IEA	biological process
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0016328	lateral plasma membrane	IEA	cellular component
GO:0031253	cell projection membrane	IEA	cellular component
GO:0040017	positive regulation of locomotion	IEA	biological process
GO:0048278	vesicle docking	IEA	biological process
GO:0001921	positive regulation of receptor recycling	IEA	biological process
GO:0002027	regulation of heart rate	IEA	biological process
GO:0002244	hematopoietic progenitor cell differentiation	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0030552	cAMP binding	IEA	molecular function
GO:0034446	substrate adhesion-dependent cell spreading	IEA	biological process
GO:0042383	sarcolemma	IEA	cellular component
GO:0042391	regulation of membrane potential	IEA	biological process
GO:0043087	regulation of GTPase activity	IEA	biological process
GO:0060931	sinoatrial node cell development	IEA	biological process
GO:0060973	cell migration involved in heart development	IEA	biological process
GO:2001135	regulation of endocytic recycling	IEA	biological process
GO:0042383	sarcolemma	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016328	lateral plasma membrane	IEA	cellular component
GO:0005901	caveola	IEA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0030054	cell junction	IDA	cellular component
GO:0016021	integral component of membrane	NAS	cellular component
GO:0007517	muscle organ development	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04530	Tight junction

Diseases

Associated diseases	References
Limb-girdle muscular dystrophy	KEGG:H00593
Limb-girdle muscular dystrophy	KEGG:H00593
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray