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Aliases for BVES Gene

Aliases for BVES Gene

  • Blood Vessel Epicardial Substance 2 3 5
  • Popeye Domain-Containing Protein 1 3 4
  • POPDC1 3 4
  • HBVES 3 4
  • POP1 3 4
  • Popeye Domain Containing 1 2
  • Popeye Protein 1 4
  • LGMD2X 3

External Ids for BVES Gene

Previous GeneCards Identifiers for BVES Gene

  • GC06M105408
  • GC06M105571
  • GC06M105594
  • GC06M105652
  • GC06M102987

Summaries for BVES Gene

Entrez Gene Summary for BVES Gene

  • 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]

GeneCards Summary for BVES Gene

BVES (Blood Vessel Epicardial Substance) is a Protein Coding gene. Diseases associated with BVES include Tetralogy Of Fallot. GO annotations related to this gene include structural molecule activity and cAMP binding. An important paralog of this gene is POPDC3.

UniProtKB/Swiss-Prot for BVES Gene

  • 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 (By similarity). Involved in skeletal muscle and heart development (PubMed:26642364). Also involved in striated muscle regeneration and repair and in the regulation of cell spreading (By similarity).

Gene Wiki entry for BVES Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BVES Gene

Genomics for BVES Gene

Regulatory Elements for BVES Gene

Enhancers for BVES Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around BVES on UCSC Golden Path with GeneCards custom track

Promoters for BVES Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around BVES on UCSC Golden Path with GeneCards custom track

Genomic Location for BVES Gene

Chromosome:
6
Start:
105,096,822 bp from pter
End:
105,137,174 bp from pter
Size:
40,353 bases
Orientation:
Minus strand

Genomic View for BVES Gene

Genes around BVES on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BVES Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BVES Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BVES Gene

Proteins for BVES Gene

  • Protein details for BVES Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NE79-POPD1_HUMAN
    Recommended name:
    Blood vessel epicardial substance
    Protein Accession:
    Q8NE79
    Secondary Accessions:
    • A8K1R4
    • E1P5D8
    • Q5T550
    • Q5T551
    • Q8IWC6
    • Q9HBV0
    • Q9UNG6

    Protein attributes for BVES Gene

    Size:
    360 amino acids
    Molecular mass:
    41451 Da
    Quaternary structure:
    • 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). Interacts with KCNK2; the interaction enhances KCNK2 surface expression (PubMed:26642364).

neXtProt entry for BVES Gene

Proteomics data for BVES Gene at MOPED

Post-translational modifications for BVES Gene

  • Glycosylation at Asn 2 and Asn 30
  • Modification sites at PhosphoSitePlus

Other Protein References for BVES Gene

Antibody Products

  • Abcam antibodies for BVES

No data available for DME Specific Peptides for BVES Gene

Domains & Families for BVES Gene

Protein Domains for BVES Gene

Suggested Antigen Peptide Sequences for BVES Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NE79

UniProtKB/Swiss-Prot:

POPD1_HUMAN :
  • Belongs to the popeye family.
Family:
  • Belongs to the popeye family.
genes like me logo Genes that share domains with BVES: view

No data available for Gene Families for BVES Gene

Function for BVES Gene

Molecular function for BVES Gene

GENATLAS Biochemistry:
mouse Bves homolog,expressed in developing and adult heart and skeletal muscle
UniProtKB/Swiss-Prot 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 (By similarity). Involved in skeletal muscle and heart development (PubMed:26642364). Also involved in striated muscle regeneration and repair and in the regulation of cell spreading (By similarity).

Gene Ontology (GO) - Molecular Function for BVES Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IDA 16188940
GO:0005515 protein binding IEA,IPI 26642364
genes like me logo Genes that share ontologies with BVES: view
genes like me logo Genes that share phenotypes with BVES: view

Animal Models for BVES Gene

MGI Knock Outs for BVES:

Animal Model Products

miRNA for BVES Gene

miRTarBase miRNAs that target BVES

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BVES Gene

Localization for BVES Gene

Subcellular locations from UniProtKB/Swiss-Prot for BVES Gene

Lateral cell membrane. Cell junction, tight junction. Membrane; Multi-pass membrane protein. Cell membrane, sarcolemma. 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. {ECO:0000250 UniProtKB:Q9ES83}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BVES Gene COMPARTMENTS Subcellular localization image for BVES gene
Compartment Confidence
plasma membrane 5
cytosol 2
peroxisome 2
endoplasmic reticulum 1
extracellular 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for BVES Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031253 cell projection membrane IEA --
genes like me logo Genes that share ontologies with BVES: view

Pathways & Interactions for BVES Gene

SuperPathways for BVES Gene

No Data Available

Interacting Proteins for BVES Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000313172%0d%0a9606.ENSP00000335560%0d%0a
Selected Interacting proteins: ENSP00000313172 for BVES Gene via STRING

Symbol External ID(s) Details
ARHGEF25

Gene Ontology (GO) - Biological Process for BVES Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001921 positive regulation of receptor recycling ISS --
GO:0002244 hematopoietic progenitor cell differentiation IEA --
GO:0007507 heart development IMP 26642364
GO:0007517 muscle organ development NAS 10441744
GO:0007519 skeletal muscle tissue development IMP 26642364
genes like me logo Genes that share ontologies with BVES: view

No data available for Pathways by source and SIGNOR curated interactions for BVES Gene

Drugs & Compounds for BVES Gene

No Compound Related Data Available

Transcripts for BVES Gene

Unigene Clusters for BVES Gene

Blood vessel epicardial substance:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for BVES Gene

No ASD Table

Relevant External Links for BVES Gene

GeneLoc Exon Structure for
BVES
ECgene alternative splicing isoforms for
BVES

Expression for BVES Gene

mRNA expression in normal human tissues for BVES Gene

mRNA differential expression in normal tissues according to GTEx for BVES Gene

This gene is overexpressed in Muscle - Skeletal (x8.5) and Heart - Left Ventricle (x6.4).

Protein differential expression in normal tissues from HIPED for BVES Gene

This gene is overexpressed in Fetal heart (31.9) and Liver (29.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for BVES Gene



SOURCE GeneReport for Unigene cluster for BVES Gene Hs.221660

mRNA Expression by UniProt/SwissProt for BVES Gene

Q8NE79-POPD1_HUMAN
Tissue specificity: Expressed in epithelial cells (at protein level). Expressed in fetal and adult heart and skeletal muscle.
genes like me logo Genes that share expression patterns with BVES: view

Primer Products

No data available for Protein tissue co-expression partners for BVES Gene

Orthologs for BVES Gene

This gene was present in the common ancestor of animals.

Orthologs for BVES Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia BVES 35
  • 90.09 (n)
  • 88.89 (a)
BVES 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BVES 35
  • 92.78 (n)
  • 95.56 (a)
BVES 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bves 35
  • 85.1 (n)
  • 87.71 (a)
Bves 16
Bves 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia BVES 35
  • 99.63 (n)
  • 99.44 (a)
BVES 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bves 35
  • 83.52 (n)
  • 85.39 (a)
oppossum
(Monodelphis domestica)
Mammalia BVES 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BVES 36
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves BVES 35
  • 76.06 (n)
  • 77.18 (a)
BVES 36
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BVES 36
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bves 35
  • 71.39 (n)
  • 76.6 (a)
Str.19588 35
African clawed frog
(Xenopus laevis)
Amphibia LOC398323 35
zebrafish
(Danio rerio)
Actinopterygii bves 35
  • 64.56 (n)
  • 68.17 (a)
bves 36
  • 62 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta bves 36
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 34 (a)
OneToOne
Species with no ortholog for BVES:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BVES Gene

ENSEMBL:
Gene Tree for BVES (if available)
TreeFam:
Gene Tree for BVES (if available)

Paralogs for BVES Gene

Paralogs for BVES Gene

(2) SIMAP similar genes for BVES Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with BVES: view

Variants for BVES Gene

Sequence variations from dbSNP and Humsavar for BVES Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs2275289 - 105,125,545(+) TCGCC(A/G/T)GTACA reference, missense
rs9486039 - 105,125,549(+) CGGTA(C/T)ATGCC reference, missense
VAR_075625 -
rs1013137 -- 105,112,443(-) TATAC(C/T)TTATG intron-variant
rs1018810 -- 105,111,734(-) CACAC(A/G)ATGCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BVES Gene

Variant ID Type Subtype PubMed ID
dgv2000e1 CNV Complex 17122850
dgv216e55 CNV Gain 17911159
essv19736 CNV CNV 17122850
nsv818450 CNV Gain 17921354
nsv830754 CNV Gain 17160897
esv2614469 CNV Deletion 19546169
esv1920969 CNV Deletion 18987734
esv3772 CNV Deletion 18987735
esv993961 CNV Deletion 20482838
esv2732533 CNV Deletion 23290073
esv6261 CNV Loss 19470904
nsv886529 CNV Loss 21882294
nsv7950 CNV Gain 18304495

Variation tolerance for BVES Gene

Residual Variation Intolerance Score: 49.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.31; 53.34% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BVES Gene

Human Gene Mutation Database (HGMD)
BVES

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BVES Gene

Disorders for BVES Gene

MalaCards: The human disease database

(1) MalaCards diseases for BVES Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
tetralogy of fallot
  • tetrology of fallot
- elite association - COSMIC cancer census association via MalaCards
Search BVES in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

POPD1_HUMAN
  • Note=Defects in BVES are associated with cardiac arrhythmia and limb-girdle muscular dystrophy. {ECO:0000269 PubMed:26642364}.

Relevant External Links for BVES

Genetic Association Database (GAD)
BVES
Human Genome Epidemiology (HuGE) Navigator
BVES
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BVES
genes like me logo Genes that share disorders with BVES: view

No data available for Genatlas for BVES Gene

Publications for BVES Gene

  1. Isolation and characterization of the novel popeye gene family expressed in skeletal muscle and heart. (PMID: 10882522) Andree B. … Brand T. (Dev. Biol. 2000) 2 3 4 23 67
  2. Cloning and expression of hbves, a novel and highly conserved mRNA expressed in the developing and adult heart and skeletal muscle in the human. (PMID: 10441744) Reese D.E. … Bader D.M. (Mamm. Genome 1999) 2 3
  3. POPDC1S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking. (PMID: 26642364) Schindler R.F. … Ferlini A. (J. Clin. Invest. 2016) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. BVES inhibition triggers epithelial-mesenchymal transition in human hepatocellular carcinoma. (PMID: 24442236) Han P. … Yan W. (Dig. Dis. Sci. 2014) 3

Products for BVES Gene

Sources for BVES Gene

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