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FLASH GENE
Symbol BVES contributors: mct/npt - updated : 22-08-2008
HGNC name blood vessel epicardial substance
HGNC id 1152
Location 6q21      Physical location : 105.544.699 - 105.584.543
Synonym name popeye protein 1
Synonym symbol(s) POP1, HBVES, MGC42413, POPDC1
DNA
TYPE functioning gene
STRUCTURE 39.00 kb     8 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
LOC389419 6 similar to hypothetical protein (L1H 3 region) - human LOC391956 6 similar to Hypothetical protein KIAA1002 HACE1 6q21 HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 LOC389420 6 LOC389420 LOC389421 6 similar to LOC373796 protein BVES 6q21 blood vessel epicardial substance POPDC3 6q21 popeye domain containing 3 PREP 6q16.3-q21 prolyl endopeptidase LOC391957 6 similar to Chromatin assembly factor 1 subunit B (CAF-1 subunit B) (Chromatin assembly factor I p60 subunit) (CAF-I 60 kDa subunit) (CAF-Ip60) PRDM1 6q21-q22.1 PR domain containing 1, with ZNF domain APG5L 6q21 APG5 autophagy 5-like (S. cerevisiae) AIM1 6q21 absent in melanoma 1 RTN4IP1 6q21 reticulon 4 interacting protein 1 QRSL1 6q21 glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1 C6orf203 6q21 chromosome 6 open reading frame 203 KIAA1553 6q21 KIAA1553 C6orf210 6q21 chromosome 6 open reading frame 210 FLJ10159 6q21 hypothetical protein FLJ10159 SCML4 6q21 sex comb on midleg-like 4 (Drosophila) SEC63 6q21 SEC63-like (S. cerevisiae) LOC285752 6q21 similar to ribosomal protein L3; 60S ribosomal protein L3; HIV-1 TAR RNA-binding protein B OSTM1 6q21 osteopetrosis associated transmembrane protein 1 NR2E1 6q21 nuclear receptor subfamily 2, group E, member 1 SNX3 6q13-q22.3 sorting nexin 3 LACE1 6q22.1 lactation elevated 1 FOXO3A 6q21 forkhead box O3A
RNA
TRANSCRIPTS type messenger
text four different transcripts differing in their tissue specificity
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
8 - 5437 41.3 360 - Andree, Feng (2008)
variants A and B encode the same protein
8 - 5507 41.3 360 - Andree, Feng (2008)
  • variants A and B encode the same protein
  • differing in the 5' and 3' UTRs compared to variant A
    		•
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveesophagus   highly
    Endocrineparathyroid   highly
    Hearing/Equilibriumear   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Lymphoid    
    Muscularstriatumcardiac  
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text developing heart
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • three transmembrane helices with an extracellular C terminus
  • cytoplasmic carboxyl terminal portion (amino acids 115
    • 358) contains the uncharacterized POPDC domain (23
    25)
    HOMOLOGY
    interspecies ortholog to murine Bves
    Homologene
    FAMILY
  • POP family of proteins containing three putative transmembrane domains
    • CATEGORY motor/contractile
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • playing an important role in development of cardiac and skeletal muscles
  • involved in the regeneration of adult skeletal muscle
  • acting as a cell adhesion molecule in coronary vasculogenesis
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text
  • muscle development
  • heart development
    • PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with GEFT, a GEF for Rho-family GTPases, and colocalizing in adult skeletal muscle
  • regulator of the RAC1 and CDC42 signaling
    • cell & other
    REGULATION
    Other regulated by PAX3 or PAX3-FOXO1A
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene detection of methylation of the gene in blood might have utility in monitoring and detecting tumor recurrence in early-stage non-small cell lung cancer after curative surgical resection
    Marker
    Therapy target
    ANIMAL & CELL MODELS