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FLASH GENE
Symbol VPS33B contributors: - updated : 13-10-2007
HGNC name vacuolar protein sorting 33B (yeast)
HGNC id 12712
Corresponding disease
ARCS arthrogryposis-renal dysfunction-cholestasis
Location 15q26.1      Physical location : 91.541.773 - 91.565.833
Synonym symbol(s) FLJ14848
DNA
TYPE functioning gene
STRUCTURE 23.00 kb     23 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
EXPRESSION
Type widely
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Reproductivefemale systemuteruscervix highly
 male systemtestis  highly
cells
SystemCellPubmedSpeciesStageRna symbol
Blood/Hematopoieticmegakaryocyte
not specificfibroblast
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES globular Hydrophilic
STRUCTURE
motifs/domains
  • a SEC1 domain
  • HOMOLOGY
    interspecies homolog to rattus Vps33b
    ortholog to yeast S.cerevisiae class C Vps33b
    intraspecies homolog to VPS33A
    Homologene
    FAMILY yeast S.cerevisiae Sec1 family
    CATEGORY secretory , transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    intracellular,cytoplasm,cytosolic
    text late endosome
    basic FUNCTION
  • involved in protein sorting and vesicular trafficking from Golgi to vacuoles
  • inducing perinuclear clustering of late endosomes and lysosomes in renal cells
  • may mediate vesicle trafficking steps in the endosome/lysosome pathway
  • involved in intracellular vesicle trafficking, being essential for the development of platelet alpha-granules but not for granule secretion
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ARCS
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS