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FLASH GENE
Symbol BCAS3 contributors: mct - updated : 27-03-2023
HGNC name breast carcinoma amplified sequence 3
HGNC id 14347
Corresponding disease
HEMARS Hengel-Maroofian-Schols syndrome
Location 17q23.2      Physical location : 58.755.171 - 59.470.198
Synonym name
  • protein Maab1
  • BCAS4/BCAS3 fusion
  • breast carcinoma amplified sequence 4/3 fusion protein
  • metastasis associated antigen of breast cancer
  • Rudhira
  • phagophore assembly factor 2
  • Synonym symbol(s) GAOB1, MAAB1, MGC4973, FLJ20128, DKFZp686O1527, MAAB, PHAF2, HEMARS
    DNA
    TYPE functioning gene
    STRUCTURE 714.98 kb     25 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    25 - 3626 - 928 - 2021 33499712
    24 - 3581 - 913 - 2021 33499712
    26 - 3652 - 958 - 2021 33499712
    25 - 3607 - 943 - 2021 33499712
    26 - 3628 - 950 - 2021 33499712
    26 - 3653 - 921 - 2021 33499712
    26 - 3674 - 928 - 2021 33499712
    25 - 3583 - 935 - 2021 33499712
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvessel    
    Digestiveliver    
     mouthtongue  highly
    Reproductivefemale systembreastmammary gland highly
     male systemtestis  highly
    Respiratorylung    
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly
    Epithelialsecretoryglandular  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, fetal
    Text kidney, stem cells
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a WD40 repeat domain that directly binds phosphatidylinositol-3-phosphate
  • a BCAS3 domain necessary and sufficient for MT-IF cross-linking and cell migration
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY transcription factor , protooncogene
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microfilament
    intracellular,cytoplasm,cytoskeleton,intermed filament
    intracellular,nucleus,chromatin/chromosome,euchromosome
    basic FUNCTION
  • involved in the pathogenesis of breast cancer
  • important role for MTA1-BCAS3 pathway in promoting cancerous phenotypes in breast tumor cells
  • essential role for BCAS3 in blood vessel remodeling
  • mediates cytoskeleton organization and dynamics during endothelial cell (EC) migration
  • regulatory roles for human BCAS3 and PHAF1 in autophagic activity
  • functional characterization of BCAS3 offers new insights into the oncogenic properties and chemotherapy resistance in breast cancer.
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • BCAS3 and PHAF1 form a complex and their association with the phagophore assembly site requires both proteins
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • target of MTA1
  • cell & other
    REGULATION
    Other regulated by MTA1
    ASSOCIATED DISORDERS
    corresponding disease(s) HEMARS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   amplification    
    in breast carcinoma
    tumoral fusion      
    with BCAS4 in breast cancer
    tumoral     --over  
    correlates with shorter overall survival (OS) in breast cancer
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mice Rudhira null embryos die at embryonic day (E) 9.5 accompanied by severe vascular patterning defects in embryonic and extra-embryonic tissues