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FLASH GENE
Symbol RUBCN contributors: mct/shn - updated : 10-06-2016
HGNC name KIAA0226
HGNC id 28991
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
  • RUBCN acts as a negative regulator for virus-triggered IFN signaling
  • 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
  • RUBCN interacts with IRF3 and ultimately this interaction leads to inhibition of the dimerization of IRF3
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SCAR15
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS