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FLASH GENE
Symbol RUBCN contributors: mct/shn - updated : 10-06-2013
HGNC name KIAA0226
HGNC id 28991
Corresponding disease
SCAR15 spinocerebellar ataxia, autosomal recessive 15
Location 3q29      Physical location : -
Genatlas name RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein
Synonym name
  • hypothetical protein LOC9711
  • similar to D. melanogaster gene encoded in P1 clone DS00642
  • beclin-1 associated RUN domain containing protein
  • RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein
  • RUBICON
  • rundataxin
  • Synonym symbol(s) KIAA0226, hCG_22771, RUBICON
    DNA
    TYPE functioning gene
    STRUCTURE 65.00 kb     20 Exon(s)
    MAPPING cloned Y linked N status provisional
    Map cen - D3S1311 - D3S3707 - KIAA0226 - D3S3550 -qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    20 splicing 6732 108 972 - -
    22 splicing 6903 103 927 - -
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   lowly Homo sapiens
    Digestiveintestinelarge intestinecolon lowly Homo sapiens
     intestinesmall intestine  lowly Homo sapiens
     liver   lowly Homo sapiens
    Endocrinepancreas   lowly Homo sapiens
    Lymphoid/Immunespleen   lowly Homo sapiens
     thymus   lowly Homo sapiens
    Nervousbrain   lowly Homo sapiens
    Reproductivefemale systemplacenta  lowly Homo sapiens
     female systemovary  lowly Homo sapiens
     male systemprostate  lowly Homo sapiens
     male systemseminal vesicles  lowly Homo sapiens
    Respiratorylung   lowly Homo sapiens
    Urinarykidney   lowly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal lowly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticleukocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains RH domain
    HOMOLOGY
    interspecies ortholog to 1700021K19Rik, Mus musculus
    Homologene
    FAMILY
    CATEGORY motor/contractile
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    text localized at the endosome/lysosome
    basic FUNCTION
  • negatively regulates both the autophagic and endocytic pathways (
  • prevents endosome maturation through differential interactions with RAB7A and UVRAG
  • serves as a previously unknown RAB7A effector to ensure the proper progression of the endocytic pathway
  • key negative regulator in endosome maturation
  • critical function in endocytic trafficking, which is to control the endosome maturation by regulating RAB7A and UVRAG
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    PATHWAY
    metabolism
    signaling
    a component component of the PI3KC3 complex
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • Rab7 and PI3-kinase (
  • interacting with RAB7A, and UVRAG (GTP-bound RAB7A competes with UVRAG for RUBICON binding)
  • Beclin 1-interacting protein
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SCAR15
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS