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FLASH GENE
Symbol VPS13B contributors: mct - updated : 14-11-2012
HGNC name vacuolar protein sorting 13 homolog B (yeast)
HGNC id 2183
Corresponding disease
COH1 Cohen syndrome
Location 8q22.2      Physical location : 100.025.493 - 100.889.807
Synonym name
  • vacuolar protein sorting 13B (yeast)
  • Cohen syndrome protein 1
  • Synonym symbol(s) CHS1, FLJ20583, MGC45726, KIAA0532, DKFZp313I0811, COH1
    DNA
    TYPE functioning gene
    STRUCTURE 864.31 kb     62 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    18 - 2822 - 863 - 2008 18655112
  • isoform 3
  • including an alternates (exon 28 and 28b)
  • 62 - 14111 448.7 4022 - 2008 18655112
  • isoform 5
  • skipping of exon 27 and 28b
  • 62 - 14036 - 3997 - 2008 18655112
  • isoform 1
  • exons 1 to 62
  • 8 - 1634 - 415 - 2008 18655112
  • isoform 4
  • lack of exon 28 and 28b
  • EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvessel    
    Digestivemouthtongue   
    Reproductivefemale systembreastmammary gland highly
    Respiratoryrespiratory tractlarynx  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a C-terminal fragment of 315 aa involved in the localization to the Golgi (important role of the VPS13B in Golgi maintenance)
  • HOMOLOGY
    interspecies homolog to murine Vps13b
    Homologene
    FAMILY
  • VPS13 family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    text peripheral Golgi membrane protein, overlapping with the cis-Golgi matrix protein GOLGA2
    basic FUNCTION
  • may be involved in vesicle-mediated sorting and intracellular protein transport
  • may be playing a role in the development and the function of the eye, hematological system, and central nervous system
  • Golgi-associated matrix protein required for Golgi integrity
  • peripheral protein required for Golgi maintenance and loss of Golgi integrity contributes to the pathology of Cohen syndrome
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • zn2+
  • protein
  • peripheral Golgi membrane protein that strongly co-localizes with the cis-Golgi matrix protein GOLGA2
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) COH1
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS