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FLASH GENE
Symbol GBF1 contributors: mct - updated : 10-11-2020
HGNC name golgi brefeldin A resistant guanine nucleotide exchange factor 1
HGNC id 4181
Corresponding disease
CMT2DD Charcot-Marie-Tooth disease, axonal, type 2DD
Location 10q24.32      Physical location : 104.005.308 - 104.142.649
Synonym name
  • BFA-resistant GEF 1
  • similar to Yeast SEC7 protein
  • golgi-specific brefeldin A resistant guanine nucleotide exchange factor 1
    • Synonym symbol(s) ARF1GEF, KIAA0248, FLJ21263, FLJ21500, MGC134877, MGC134878
    DNA
    TYPE functioning gene
    STRUCTURE 137.37 kb     40 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence cytosine-phosphate-guanine/HTF
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    40 - 6400 206.5 1859 - 2003 12646181
    40 - 6499 - 1859 - 2003 12646181
    40 - 6388 - 1855 - 2003 12646181
    40 - 6391 - 1856 - 2003 12646181
    40 - 6403 - 1860 - 2003 12646181
    40 - 6352 - 1843 - 2003 12646181
    38 - 6106 - 1761 - 2003 12646181
    37 - 6094 - 1757 - 2003 12646181
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinepancreas   predominantly
    Nervousbrain   highly Mus musculus
     spinal cord   highly Mus musculus
    Reproductivemale systemtestis  predominantly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly
    Muscularstriatumskeletal highly Mus musculus
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a central Sec7 domain involved in transport between to and from Golgi
  • an abundance of acidic residues and a proline rich region, USO1-binding (pro-rich) region leading to Golgi disruption
  • HDS1 and HDS2 domains in the C-terminal half of GBF1 that are required for the recruitment of GBF1 to Golgi membranes via a putative receptor , and the lipid-binding domain (HDS1) immediately downstream of the catalytic Sec7 domainmediates association with both lipid droplets and Golgi membranes in cells
    • HOMOLOGY
    interspecies homolog to murine Gbf1 (94.0pc)
    homolog to rattus Gbf1 (94.1pc)
    Homologene
    FAMILY
  • guanine-nucleotide exchange factor (GEF) of the Sec7 domain family
    • CATEGORY regulatory , transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,peroxisome
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytosolic
    text
  • primary cytosolic, colocalizing with COPB1 in a perinuclear structure
  • GBF1 acts at the cis-Golgi, whereas ARFGEF1 and its close paralog ARFGEF2 act at the trans-Golgi
    • basic FUNCTION
  • large nucleotide exchange factor for the ADP-ribosylation factor
  • guanine nucleotide-exchange protein for ADP-ribosylation factor predominantly toured ARF6, putatively involved in retrograde trafficking
  • required for Golgi-localized, gamma-ear-containing, ADP ribosylation factor (Arf)-binding proteins (GGA) recruitment to Golgi membranes and plays a role in the proper processing and sorting of lysosomal cargo
  • required for COPI recruitment, Golgi subcompartmentalization, and cargo progression to the cell surface
  • regulates COPI membrane recruitment in the early secretory pathway
  • promotes the activation of ARF5 through replacement of GDP with GTP
  • GBF1 and ARF1 function in vesicular trafficking, lipid homoeostasis and organelle dynamics
  • ARF1 small G protein and its activator GBF1 are important regulators of Golgi organization, maintaining its morphology and function
  • is mainly involved in the formation of coatomer protein complex (COPI) vesicles, maintenance and function of the Golgi apparatus, and mitochondria migration and positioning
  • protein plays an important yet unexplored role in neuronal development and maintenance
  • GBF1 is a central player in molecular pathways that are necessary for Golgi apparatus (GA) maintenance, structure, and function
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text to and from Golgi
    PATHWAY
    metabolism
    signaling
  • AMPK-GBF1-ARF1 signaling is involved in the regulation of Golgi fragmentation during mitosis
    • a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with USO1 (interacting domains were mapped to the proline-rich region of GBF1 and the head region of USO1)
  • GBF1 and PNPLA2 interact directly and in cells, through multiple contact sites on each protein (interaction that may be involved in the membrane trafficking pathway mediated by GBF1, Arf1 and COPI, contributing to the localization of ATGL to lipid droplets)
  • GBF1-activated ARFs (ARF4 and ARF5, but not ARF3) facilitate ARFGEF1 and ARFGEF2 recruitment to the trans-Golgi network (TGN)
  • GBF1 recruitment requires ARF-GDP myristoylation-dependent interactions suggesting regulation of a membrane-bound factor
  • GBF1 and ARF4 synergize with the sensory receptor cargo, RHO, to regulate ciliary membrane trafficking
  • physical interaction between GBF1 and RHOT1, RHOT2, and also between the active GTP-bound form of ARF1 and RHOT1, RHOT2 (
    • cell & other
    REGULATION
    inhibited by brefeldin A
    Other phosphorylated by CDK1-cyclin b in mitosis, resulting in its dissociation from Golgi membranes which is important for changes in Golig dynamics (Morohashi 2010)
    ASSOCIATED DISORDERS
    corresponding disease(s) CMT2DD
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS