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FLASH GENE
Symbol GBF1 contributors: mct - updated : 23-07-2010
HGNC name golgi brefeldin A resistant guanine nucleotide exchange factor 1
HGNC id 4181
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 137.34 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
    Physical map
    BTRC 10q24-q25 beta-transducin repeat containing POLL 10q23 polymerase (DNA directed), lambda DKFZP566F084 SHFM3 10q24 split hand/foot malformation (ectrodactyly) type 3 FGF8 10q24 fibroblast growth factor 8 (androgen-induced) NPM3 10q24.31 nucleophosmin/nucleoplasmin, 3 MGEA5 10q24.1-q24.3 meningioma expressed antigen 5 (hyaluronidase) KCNIP2 10q24 Kv channel interacting protein 2 FLJ13114 10q24.32 hypothetical protein FLJ13114 HPS6 10q24.32 hypothetical protein FLJ13114 LDB1 10q24-q25 LIM domain binding 1 PRC 10q24.32 PGC-1 related co-activator NOLC1 10q22-q25 nucleolar and coiled-body phosphoprotein 1 ELOVL3 10q24.32 elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 3 PITX3 10q25 paired-like homeodomain transcription factor 3 GBF1 10q24 golgi-specific brefeldin A resistance factor 1 NFKB2 10q24 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) PSD 10q24 pleckstrin and Sec7 domain protein MGC11279 10q24.32 hypothetical protein MGC11279 MGC2491 FLJ14280 10q24.32 hypothetical protein FLJ14280 FLJ22529 10q24.32-q24.33 hypothetical protein FLJ22529 ACTR1A 10q24 ARP1 actin-related protein 1 homolog A, centractin alpha (yeast) SUFU 10q24.32 suppressor of fused homolog (Drosophila) TRIM8 10q24.3 tripartite motif-containing 8 ARL3 10q24.1 ADP-ribosylation factor-like 3 SFXN2 10q24.32 sideroflexin 2 C10orf26 10q24.33 chromosome 10 open reading frame 26 CYP17A1 10q24.3 cytochrome P450, family 17, subfamily A, polypeptide 1 LOC390000 10 similar to Tebp-pending-prov protein C10orf32 10q24.33 chromosome 10 open reading frame 32 CYT19 10q24.33 Cyt19 protein CNNM2 10q24.32 cyclin M2
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    40 - 6376 206.5 1859 - Mansour (1998)
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinepancreas   predominantly
    Nervousnerve   highly
    Reproductivemale systemtestis  predominantly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    Muscularstriatumskeletal highly
    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
  • HOMOLOGY
    interspecies homolog to murine Gbf1 (94.0pc)
    homolog to rattus Gbf1 (94.1pc)
    Homologene
    FAMILY
  • Sec7 domain family
  • CATEGORY regulatory , transport
    SUBCELLULAR LOCALIZATION     intracellular
    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
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text to and from Golgi
    PATHWAY
    metabolism
    signaling
    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)
  • 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
    ANIMAL & CELL MODELS